{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T04:20:19Z","timestamp":1747887619682,"version":"3.40.3"},"reference-count":209,"publisher":"Elsevier","isbn-type":[{"type":"print","value":"9780323990264"}],"license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023]]},"DOI":"10.1016\/bs.irn.2023.05.005","type":"book-chapter","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T05:17:19Z","timestamp":1689052639000},"page":"259-315","source":"Crossref","is-referenced-by-count":1,"title":["Experimental pharmacology: Targeting metabolic pathways"],"prefix":"10.1016","author":[{"given":"Vincenzo","family":"Leuzzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Galosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib1","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.3324\/haematol.2011.043018","article-title":"A pilot trial of deferiprone for neurodegeneration with brain iron accumulation","volume":"96","author":"Abbruzzese","year":"2011","journal-title":"Haematologica"},{"issue":"02","key":"10.1016\/bs.irn.2023.05.005_bib2","doi-asserted-by":"crossref","first-page":"083","DOI":"10.1055\/s-0037-1607191","article-title":"SLC19A3 gene defects sorting the phenotype and acronyms","volume":"49","author":"Alfadhel","year":"2018","journal-title":"Neuropediatrics"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-8-83","article-title":"Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: A retrospective review of the clinical, radiological and molecular findings of 18 new cases","volume":"8","author":"Alfadhel","year":"2013","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"9559","key":"10.1016\/bs.irn.2023.05.005_bib4","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(07)60196-2","article-title":"Wilson\u2019s disease","volume":"369","author":"Ala","year":"2007","journal-title":"The Lancet"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib5","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1177\/0883073814531822","article-title":"Long-term clinical course of Glut1 deficiency syndrome","volume":"30","author":"Alter","year":"2015","journal-title":"Journal of Child Neurology"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib6","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.1111\/liv.14179","article-title":"Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta\u2010analysis of controlled studies","volume":"39","author":"Appenzeller\u2010Herzog","year":"2019","journal-title":"Liver International"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib7","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s10048-011-0279-4","article-title":"Genotype\u2013phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant","volume":"12","author":"Arrabal","year":"2011","journal-title":"Neurogenetics"},{"issue":"24","key":"10.1016\/bs.irn.2023.05.005_bib8","doi-asserted-by":"crossref","first-page":"15785","DOI":"10.1021\/acs.jmedchem.0c01531","article-title":"Cyclic phosphopantothenic acid prodrugs for treatment of pantothenate kinase-associated neurodegeneration","volume":"63","author":"Auciello","year":"2020","journal-title":"Journal of Medicinal Chemistry"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib9","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S1474-4422(14)70190-5","article-title":"Wilson\u2019s disease and other neurological copper disorders","volume":"14","author":"Bandmann","year":"2015","journal-title":"The Lancet Neurology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib10","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1111\/j.1469-8749.2009.03541.x","article-title":"Pyruvate dehydrogenase complex deficiency: Four neurological phenotypes with differing pathogenesis","volume":"52","author":"Barnerias","year":"2010","journal-title":"Developmental Medicine & Child Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib11","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1039\/C3NP70054B","article-title":"The phosphopantetheinyl transferases: catalysis of a post-translational modification crucial for life","volume":"31","author":"Beld","year":"2014","journal-title":"Natural Product Reports"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib12","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.mito.2006.04.001","article-title":"Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency","volume":"6","author":"Berendzen","year":"2006","journal-title":"Mitochondrion"},{"key":"10.1016\/bs.irn.2023.05.005_bib13","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.neuro.2017.04.006","article-title":"The early history of manganese and the recognition of its neurotoxicity, 1837-1936","volume":"64","author":"Blanc","year":"2018","journal-title":"Neurotoxicology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib14","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2004.03.006","article-title":"The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency","volume":"82","author":"Blau","year":"2004","journal-title":"Molecular Genetics and Metabolism"},{"issue":"9","key":"10.1016\/bs.irn.2023.05.005_bib15","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1517\/17425255.2013.804064","article-title":"Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias","volume":"9","author":"Blau","year":"2013","journal-title":"Expert Opinion on Drug Metabolism & Toxicology"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib16","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.202101164","article-title":"Bis-choline tetrathiomolybdate prevents copper-induced blood\u2013brain barrier damage","volume":"5","author":"Borchard","year":"2022","journal-title":"Life science alliance"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib17","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/ajmg.b.32723","article-title":"Clinical relevance of heterozygosis for aceruloplasminemia","volume":"180","author":"Borges","year":"2019","journal-title":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib18","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/nrneurol.2013.163","article-title":"Lysosomal storage diseases\u2014The horizon expands","volume":"9","author":"Boustany","year":"2013","journal-title":"Nature Reviews Neurology"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib19","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.bbamcr.2008.10.016","article-title":"Sorting of lysosomal proteins","volume":"1793","author":"Braulke","year":"2009","journal-title":"Biochimica et Biophysica Acta (BBA)-Molecular Cell Research"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib20","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1007\/s00415-021-10717-0","article-title":"Efficacy and safety of N-acetyl-l-leucine in Niemann\u2013Pick disease type C","volume":"269","author":"Bremova-Ertl","year":"2022","journal-title":"Journal of Neurology"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib21","doi-asserted-by":"crossref","first-page":"185","DOI":"10.2165\/00023210-200519030-00001","article-title":"Neurologically presenting Wilson\u2019s disease","volume":"19","author":"Brewer","year":"2005","journal-title":"CNS Drugs"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib22","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1093\/brain\/awt325","article-title":"Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model","volume":"137","author":"Brunetti","year":"2014","journal-title":"Brain"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib23","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1111\/cge.13172","article-title":"Biallelic mutations in mitochondrial tryptophanyl\u2010tRNA synthetase cause Levodopa\u2010responsive infantile\u2010onset Parkinsonism","volume":"93","author":"Burke","year":"2018","journal-title":"Clinical Genetics"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib24","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.bbadis.2011.03.018","article-title":"GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings","volume":"1812","author":"Caciotti","year":"2011","journal-title":"Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease"},{"key":"10.1016\/bs.irn.2023.05.005_bib25","doi-asserted-by":"crossref","DOI":"10.1002\/hep.32484","article-title":"ATP7B gene therapy of autologous reprogrammed hepatocytes alleviates copper accumulation in a mouse model of Wilson\u2019s disease","author":"Cai","year":"2022","journal-title":"Hepatology (Baltimore, Md.)"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib26","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.ejpn.2015.04.008","article-title":"Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review","volume":"19","author":"Castiglioni","year":"2015","journal-title":"European Journal of Paediatric Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-020-01530-5","article-title":"Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: A single-arm, open-label study","volume":"15","author":"Chang","year":"2020","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"39","key":"10.1016\/bs.irn.2023.05.005_bib28","doi-asserted-by":"crossref","first-page":"13532","DOI":"10.1074\/jbc.RA119.009811","article-title":"Intracerebroventricular enzyme replacement therapy with \u03b2-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice","volume":"295","author":"Chen","year":"2020","journal-title":"Journal of Biological Chemistry"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-021-02028-4","article-title":"Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4","volume":"16","author":"Chen","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib30","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S2352-4642(17)30125-6","article-title":"Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1\/2 trial","volume":"1","author":"Chien","year":"2017","journal-title":"The Lancet Child & Adolescent Health"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib31","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.25450","article-title":"Magnetic resonance imaging\u2013guided phase 1 trial of putaminal AADC gene therapy for Parkinson\u2019s disease","volume":"85","author":"Christine","year":"2019","journal-title":"Annals of Neurology"},{"issue":"20","key":"10.1016\/bs.irn.2023.05.005_bib32","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1212\/WNL.0b013e3181c29356","article-title":"Safety and tolerability of putaminal AADC gene therapy for Parkinson disease","volume":"73","author":"Christine","year":"2009","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib33","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.parkreldis.2014.03.002","article-title":"Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): Results from a four years follow-up","volume":"20","author":"Cossu","year":"2014","journal-title":"Parkinsonism & Related Disorders"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib34","doi-asserted-by":"crossref","first-page":"e80","DOI":"10.1097\/MPG.0000000000003196","article-title":"Pediatric Wilson\u2019s disease: Phenotypic, genetic characterization and outcome of 182 children in France","volume":"73","author":"Couchonnal","year":"2021","journal-title":"Journal of Pediatric Gastroenterology and Nutrition"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib35","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1111\/ene.12348","article-title":"D\u2010penicillamine versus zinc sulfate as first\u2010line therapy for Wilson\u2019s disease","volume":"21","author":"Cz\u0142onkowska","year":"2014","journal-title":"European journal of neurology"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib36","doi-asserted-by":"crossref","DOI":"10.1016\/j.clinre.2022.101992","article-title":"Epidemiology, treatment and burden of Wilson disease in France: A 10-year analysis of the national health insurance database","volume":"46","author":"Daniel-Robin","year":"2022","journal-title":"Clinics and research in hepatology and gastroenterology"},{"issue":"14","key":"10.1016\/bs.irn.2023.05.005_bib37","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1002\/mds.21446","article-title":"Community survey of primary dystonia in the city of Kolkata, India","volume":"22","author":"Das","year":"2007","journal-title":"Movement Disorders: Official Journal of the Movement Disorder Society"},{"issue":"9","key":"10.1016\/bs.irn.2023.05.005_bib38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression","volume":"4","author":"Davidson","year":"2009","journal-title":"PLoS One"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib39","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1111\/j.1528-1157.1998.tb01315.x","article-title":"L\u2010carnitine supplementation in childhood epilepsy: Current perspectives","volume":"39","author":"De Vivo","year":"1998","journal-title":"Epilepsia"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib40","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.ymgme.2012.09.001","article-title":"Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype","volume":"107","author":"DeBrosse","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib41","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1007\/s11011-017-0044-y","article-title":"The treatment of juvenile\/adult GM1-gangliosidosis with Miglustat may reverse disease progression","volume":"32","author":"Deodato","year":"2017","journal-title":"Metabolic Brain Disease"},{"issue":"1\u20132","key":"10.1016\/bs.irn.2023.05.005_bib42","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.jns.2015.05.021","article-title":"Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs","volume":"356","author":"Di Giacopo","year":"2015","journal-title":"Journal of the Neurological Sciences"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib43","doi-asserted-by":"crossref","first-page":"11260","DOI":"10.1038\/s41598-017-11564-8","article-title":"Acetyl-4\u2032-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency","volume":"7","author":"Di Meo","year":"2017","journal-title":"Scientific reports"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib44","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1093\/hmg\/ddab296","article-title":"Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia","volume":"31","author":"Di Rocco","year":"2022","journal-title":"Human Molecular Genetics"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib45","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1212\/WNL.0b013e3182452849","article-title":"Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: Hallmarks of sepiapterin reductase deficiency","volume":"78","author":"Dill","year":"2012","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib46","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1093\/jn\/132.7.1860","article-title":"Supplemental zinc lowers measures of iron status in young women with low iron reserves","volume":"132","author":"Donangelo","year":"2002","journal-title":"The Journal of Nutrition"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib47","doi-asserted-by":"crossref","first-page":"6483","DOI":"10.1007\/s00415-022-11310-9","article-title":"The epidemiology of dystonia: The Hannover epidemiology study","volume":"269","author":"Dressler","year":"2022","journal-title":"Journal of Neurology"},{"key":"10.1016\/bs.irn.2023.05.005_bib48","article-title":"Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)","author":"Dulz","year":"2022","journal-title":"British Journal of Ophthalmology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib49","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/mdc3.12573","article-title":"The spectrum of movement disorders in childhood\u2010onset lysosomal storage diseases","volume":"5","author":"Ebrahimi\u2010Fakhari","year":"2018","journal-title":"Movement Disorders Clinical Practice"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib50","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0163-7258(01)00144-9","article-title":"The role of neuronal and extraneuronal plasma membrane transporters in the inactivation of peripheral catecholamines","volume":"91","author":"Eisenhofer","year":"2001","journal-title":"Pharmacology & Therapeutics"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib51","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0192028","article-title":"Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models","volume":"13","author":"Elbaum","year":"2018","journal-title":"PLoS One"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib52","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1007\/s40263-019-00642-2","article-title":"Long-term neuropsychological outcomes from an open-label phase I\/IIa trial of 2-hydroxypropyl-\u03b2-cyclodextrins (VTS-270) in Niemann-Pick disease, type C1","volume":"33","author":"Farmer","year":"2019","journal-title":"CNS Drugs"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib53","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.jhep.2010.04.039","article-title":"Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation","volume":"53","author":"Finkenstedt","year":"2010","journal-title":"Journal of Hepatology"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib54","doi-asserted-by":"crossref","first-page":"e1371","DOI":"10.1002\/mgg3.1371","article-title":"Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience","volume":"8","author":"Fischetto","year":"2020","journal-title":"Molecular Genetics & Genomic Medicine"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib55","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1016\/S0896-6273(00)80418-3","article-title":"Vesicular transport regulates monoamine storage and release but is not essential for amphetamine action","volume":"19","author":"Fon","year":"1997","journal-title":"Neuron"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib56","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1002\/mds.22002","article-title":"Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation","volume":"23","author":"Forni","year":"2008","journal-title":"Movement Disorders"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib57","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1002\/jat.4358","article-title":"Accumulation of molybdenum in major organs following repeated oral administration of bis\u2010choline tetrathiomolybdate in the Sprague Dawley rat","volume":"42","author":"Foster","year":"2022","journal-title":"Journal of Applied Toxicology"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib58","doi-asserted-by":"crossref","first-page":"3229","DOI":"10.1111\/ene.15515","article-title":"Movement disorders in valine m\u00e9tabolism diseases caused by HIBCH and ECHS1 deficiencies","volume":"29","author":"Fran\u00e7ois-Heude","year":"2022","journal-title":"European Journal of Neurology"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib59","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/ana.22685","article-title":"Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy","volume":"71","author":"Friedman","year":"2012","journal-title":"Annals of Neurology"},{"issue":"22","key":"10.1016\/bs.irn.2023.05.005_bib60","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1212\/WNL.0000000000004689","article-title":"Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia","volume":"89","author":"Friedman","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/bs.irn.2023.05.005_bib61","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.parkreldis.2019.09.015","article-title":"Dystonia-ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review","volume":"68","author":"Galosi","year":"2019","journal-title":"Parkinsonism & Related Disorders"},{"key":"10.1016\/bs.irn.2023.05.005_bib62","first-page":"13","article-title":"Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling","author":"Galosi","year":"2022","journal-title":"Frontiers in Neurology"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib63","doi-asserted-by":"crossref","first-page":"e1112","DOI":"10.1212\/WNL.0000000000006199","article-title":"The phenotype of SCN8A developmental and epileptic encephalopathy","volume":"91","author":"Gardella","year":"2018","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib64","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0785-7","article-title":"Consensus clinical management guidelines for Niemann-Pick disease type C","volume":"13","author":"Geberhiwot","year":"2018","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"40","key":"10.1016\/bs.irn.2023.05.005_bib65","doi-asserted-by":"crossref","first-page":"30686","DOI":"10.1074\/jbc.M110.124016","article-title":"Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor","volume":"285","author":"Gersting","year":"2010","journal-title":"Journal of Biological Chemistry"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib66","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/ana.410090509","article-title":"Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features","volume":"9","author":"Goldman","year":"1981","journal-title":"Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib67","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/nrm.2017.73","article-title":"Regulation of heat shock transcription factors and their roles in physiology and disease","volume":"19","author":"Gomez-Pastor","year":"2018","journal-title":"Nature Reviews. Molecular Cell Biology"},{"key":"10.1016\/bs.irn.2023.05.005_bib68","doi-asserted-by":"crossref","first-page":"23","DOI":"10.3389\/fnagi.2013.00023","article-title":"Manganese neurotoxicity: New perspectives from behavioral, neuroimaging, and neuropathological studies in humans and non-human primates","volume":"5","author":"Guilarte","year":"2013","journal-title":"Frontiers in Aging Neuroscience"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib69","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S1096-7192(02)00026-4","article-title":"Pilot study of mass screening for Wilson\u2019s disease in Korea","volume":"76","author":"Hahn","year":"2002","journal-title":"Molecular Genetics and Metabolism"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib70","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1136\/jnnp-2018-320283","article-title":"Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: A sustained dramatic effect","volume":"90","author":"Hainque","year":"2019","journal-title":"Journal of Neurology, Neurosurgery & Psychiatry"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib71","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ymgme.2007.10.131","article-title":"A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate","volume":"93","author":"Han","year":"2008","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/bs.irn.2023.05.005_bib72","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.ymgme.2005.09.002","article-title":"Delivery of exogenous tetrahydrobiopterin (BH4) to cells of target organs: Role of salvage pathway and uptake of its precursor in effective elevation of tissue BH4","volume":"86","author":"Hasegawa","year":"2005","journal-title":"Molecular Genetics and Metabolism"},{"issue":"15","key":"10.1016\/bs.irn.2023.05.005_bib73","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1002\/mds.22095","article-title":"Study of istradefylline in patients with Parkinson\u2019s disease on levodopa with motor fluctuations","volume":"23","author":"Hauser","year":"2008","journal-title":"Movement Disorders: Official Journal of the Movement Disorder Society"},{"issue":"19","key":"10.1016\/bs.irn.2023.05.005_bib74","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000003594","article-title":"Aceruloplasminemia with psychomotor excitement and neurological sign was improved by minocycline (case report)","volume":"95","author":"Hayashida","year":"2016","journal-title":"Medicine"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib75","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/ana.20550","article-title":"Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency","volume":"58","author":"Head","year":"2005","journal-title":"Annals of Neurology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib76","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymgme.2021.04.003","article-title":"Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies","volume":"133","author":"Himmelreich","year":"2021","journal-title":"Molecular Genetics and Metabolism"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib77","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ymgme.2016.11.004","article-title":"Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)","volume":"120","author":"Hogarth","year":"2017","journal-title":"Molecular Genetics and Metabolism"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib78","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1093\/hmg\/ddg026","article-title":"An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria","volume":"12","author":"H\u00f6rtnagel","year":"2003","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/bs.irn.2023.05.005_bib79","series-title":"Chemistry and biology of pteridines and folates","first-page":"223","article-title":"Tissue distribution of tetrahydrobiopterin generating enzymes","author":"Hoshiga","year":"1993"},{"issue":"38","key":"10.1016\/bs.irn.2023.05.005_bib80","doi-asserted-by":"crossref","first-page":"16381","DOI":"10.1073\/pnas.0906784106","article-title":"Elucidation of the mechanism of mitochondrial iron loading in Friedreich\u2019s ataxia by analysis of a mouse mutant","volume":"106","author":"Huang","year":"2009","journal-title":"Proceedings of the National Academy of Sciences"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib81","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1007\/s004399900115","article-title":"Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation","volume":"105","author":"Hwu","year":"1999","journal-title":"Human Genetics"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib82","doi-asserted-by":"crossref","first-page":"1568S","DOI":"10.1093\/jn\/137.6.1568S","article-title":"Inherited disorders affecting dopamine and serotonin: Critical neurotransmitters derived from aromatic amino acids","volume":"137","author":"Hyland","year":"2007","journal-title":"The Journal of Nutrition"},{"issue":"134","key":"10.1016\/bs.irn.2023.05.005_bib83","doi-asserted-by":"crossref","first-page":"134ra61","DOI":"10.1126\/scitranslmed.3003640","article-title":"Gene therapy for aromatic L-amino acid decarboxylase deficiency","volume":"4","author":"Hwu","year":"2012","journal-title":"Science Translational Medicine"},{"key":"10.1016\/bs.irn.2023.05.005_bib84","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.629414","article-title":"Emerging disease-modifying therapies in neurodegeneration with brain iron accumulation (NBIA) disorders","volume":"12","author":"Iankova","year":"2021","journal-title":"Frontiers in Neurology"},{"key":"10.1016\/bs.irn.2023.05.005_bib85","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.parkreldis.2022.01.012","article-title":"A relatively common hypomorphic variant in WARS2 causes monogenic disease","volume":"94","author":"Ilinca","year":"2022","journal-title":"Parkinsonism & Related Disorders"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib86","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/srep46280","article-title":"Recombinant adeno-associated virus-mediated rescue of function in a mouse model of dopamine transporter deficiency syndrome","volume":"7","author":"Illiano","year":"2017","journal-title":"Scientific Reports"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib87","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1111\/j.1469-8749.2011.03961.x","article-title":"A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome","volume":"53","author":"Ito","year":"2011","journal-title":"Developmental Medicine & Child Neurology"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib88","doi-asserted-by":"crossref","first-page":"265","DOI":"10.4103\/jpn.JPN_191_16","article-title":"Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh\u2019s disease","volume":"12","author":"Jauhari","year":"2017","journal-title":"Journal of Pediatric Neurosciences"},{"issue":"38","key":"10.1016\/bs.irn.2023.05.005_bib89","doi-asserted-by":"crossref","first-page":"9810","DOI":"10.1523\/JNEUROSCI.2922-06.2006","article-title":"Age-related changes in iron homeostasis and cell death in the cerebellum of ceruloplasmin-deficient mice","volume":"26","author":"Jeong","year":"2006","journal-title":"Journal of Neuroscience"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib90","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201910489","article-title":"4\u2032\u2010Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN","volume":"11","author":"Jeong","year":"2019","journal-title":"EMBO molecular medicine"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib91","doi-asserted-by":"crossref","first-page":"7","DOI":"10.2174\/1570159X16666180905093535","article-title":"Aminopyridines and acetyl-dL-leucine: New therapies in cerebellar disorders","volume":"17","author":"Kalla","year":"2019","journal-title":"Current Neuropharmacology"},{"key":"10.1016\/bs.irn.2023.05.005_bib92","first-page":"115","article-title":"Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 gangliosidosis","volume":"Volume 24","author":"Kannebley","year":"2015"},{"key":"10.1016\/bs.irn.2023.05.005_bib93","doi-asserted-by":"crossref","first-page":"10382","DOI":"10.3389\/bjbs.2022.10382","article-title":"Comparison between dichloroacetate and phenylbutyrate treatment for pyruvate dehydrogenase deficiency","volume":"79","author":"Karissa","year":"2022","journal-title":"British Journal of Biomedical Science"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib94","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1046\/j.1471-4159.2004.02381.x","article-title":"N\u2010butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis","volume":"89","author":"Kasperzyk","year":"2004","journal-title":"Journal of Neurochemistry"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib95","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1194\/jlr.M400411-JLR200","article-title":"Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice","volume":"46","author":"Kasperzyk","year":"2005","journal-title":"Journal of Lipid Research"},{"key":"10.1016\/bs.irn.2023.05.005_bib96","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2022.109344","article-title":"Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis","volume":"226","author":"Kick","year":"2023","journal-title":"Experimental Eye Research"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib97","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.3390\/biomedicines9121861","article-title":"Analyzing the therapeutic efficacy of bis-choline-tetrathiomolybdate in the Atp7b\u2212\/\u2212 copper overload mouse model","volume":"9","author":"Kim","year":"2021","journal-title":"Biomedicines"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib98","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.beem.2014.08.004","article-title":"Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening","volume":"29","author":"Kingma","year":"2015","journal-title":"Best Practice & Research. Clinical Endocrinology & Metabolism"},{"issue":"355","key":"10.1016\/bs.irn.2023.05.005_bib99","doi-asserted-by":"crossref","first-page":"355ra118","DOI":"10.1126\/scitranslmed.aad9823","article-title":"Heat shock protein\u2013based therapy as a potential candidate for treating the sphingolipidoses","volume":"8","author":"Kirkegaard","year":"2016","journal-title":"Science Translational Medicine"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib100","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/epi4.12414","article-title":"Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group","volume":"5","author":"Klepper","year":"2020","journal-title":"Epilepsia Open"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib101","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/S1474-4422(19)30142-5","article-title":"Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: A randomised, double-blind, controlled trial and an open-label extension study","volume":"18","author":"Klopstock","year":"2019","journal-title":"The Lancet Neurology"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib102","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1002\/mds.28392","article-title":"Fosmetpantotenate randomized controlled trial in pantothenate kinase\u2013associated neurodegeneration","volume":"36","author":"Klopstock","year":"2021","journal-title":"Movement Disorders"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib103","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1093\/brain\/awy331","article-title":"Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency","volume":"142","author":"Kojima","year":"2019","journal-title":"Brain"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib104","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1038\/s41436-021-01249-z","article-title":"Treatment of ARS deficiencies with specific amino acids","volume":"23","author":"Kok","year":"2021","journal-title":"Genetics in Medicine"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib105","doi-asserted-by":"crossref","first-page":"15","DOI":"10.4067\/S0716-97602006000100003","article-title":"Molecular and pathological basis of aceruloplasminemia","volume":"39","author":"Kono","year":"2006","journal-title":"Biological Research"},{"key":"10.1016\/bs.irn.2023.05.005_bib106","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/B978-0-12-410502-7.00007-7","article-title":"Aceruloplasminemia: An update","volume":"110","author":"Kono","year":"2013","journal-title":"International Review of Neurobiology"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib107","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.braindev.2007.01.001","article-title":"Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate","volume":"29","author":"Kuhn","year":"2007","journal-title":"Brain and Development"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib108","first-page":"1595","article-title":"Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia","volume":"119","author":"Kurian","year":"2009","journal-title":"The Journal of Clinical Investigation"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib109","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S1474-4422(10)70269-6","article-title":"Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: An observational cohort and experimental study","volume":"10","author":"Kurian","year":"2011","journal-title":"The Lancet Neurology"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib110","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201910488","article-title":"CoA\u2010dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases","volume":"11","author":"Lambrechts","year":"2019","journal-title":"EMBO Molecular Medicine"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib111","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1177\/0883073811419261","article-title":"Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency","volume":"27","author":"Le","year":"2012","journal-title":"Journal of Child Neurology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib112","doi-asserted-by":"crossref","first-page":"171","DOI":"10.14802\/jmd.21143","article-title":"Effect of chelation therapy on a Korean patient with brain manganese deposition resulting from a compound heterozygous mutation in the SLC39A14 gene","volume":"15","author":"Lee","year":"2022","journal-title":"Journal of movement disorders"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib113","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1093\/brain\/awp336","article-title":"Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder","volume":"133","author":"Leen","year":"2010","journal-title":"Brain"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib114","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.104003","article-title":"Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome","volume":"63","author":"Li","year":"2020","journal-title":"European Journal of Medical Genetics"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib115","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1002\/acn3.51462","article-title":"Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome","volume":"8","author":"Logel","year":"2021","journal-title":"Annals of Clinical and Translational Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib116","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1086\/510725","article-title":"Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration","volume":"80","author":"Loupatty","year":"2007","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib117","doi-asserted-by":"crossref","first-page":"78","DOI":"10.15252\/emmm.201606345","article-title":"CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome","volume":"9","author":"Luna\u2010S\u00e1nchez","year":"2017","journal-title":"EMBO Molecular Medicine"},{"key":"10.1016\/bs.irn.2023.05.005_bib118","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.jns.2017.02.063","article-title":"TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation","volume":"376","author":"Mahajan","year":"2017","journal-title":"Journal of the Neurological Sciences"},{"key":"10.1016\/bs.irn.2023.05.005_bib119","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.parkreldis.2022.08.033","article-title":"Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency","volume":"103","author":"Manti","year":"2022","journal-title":"Parkinsonism & Related Disorders"},{"key":"10.1016\/bs.irn.2023.05.005_bib120","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.parkreldis.2018.10.012","article-title":"Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism","volume":"61","author":"Manti","year":"2019","journal-title":"Parkinsonism & Related Disorders"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib121","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/jimd.12125","article-title":"Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies","volume":"42","author":"Marc\u00e9-Grau","year":"2019","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib122","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/jimd.12288","article-title":"Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene","volume":"44","author":"Marti\u2010Sanchez","year":"2021","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/bs.irn.2023.05.005_bib123","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.parkreldis.2020.02.003","article-title":"Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism","volume":"72","author":"Martinelli","year":"2020","journal-title":"Parkinsonism & Related Disorders"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib124","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1159\/000148691","article-title":"The neurological presentation of ceruloplasmin gene mutations","volume":"60","author":"McNeill","year":"2008","journal-title":"European Neurology"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib125","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ejpn.2009.11.001","article-title":"Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia","volume":"14","author":"McWilliam","year":"2010","journal-title":"European Journal of Paediatric Neurology"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib126","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1002\/mds.29006","article-title":"Efficacy of caffeine in ADCY5-related dyskinesia: A retrospective study","volume":"37","author":"M\u00e9neret","year":"2022","journal-title":"Movement Disorders: Official Journal of the Movement Disorder Society"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib127","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1002\/jimd.12428","article-title":"Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2\/3 trial of a novel treatment","volume":"44","author":"Mengel","year":"2021","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"8","key":"10.1016\/bs.irn.2023.05.005_bib128","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.3390\/brainsci11081031","article-title":"Coenzyme A biochemistry: From neurodevelopment to neurodegeneration","volume":"11","author":"Mignani","year":"2021","journal-title":"Brain Sciences"},{"issue":"14","key":"10.1016\/bs.irn.2023.05.005_bib129","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.2169\/internalmedicine.4178-19","article-title":"Deferasirox might be effective for microcytic anemia and neurological symptoms associated with aceruloplasminemia: A case report and review of the literature","volume":"59","author":"Miyake","year":"2020","journal-title":"Internal Medicine"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib130","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1136\/jnnp-2015-311475","article-title":"Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency","volume":"87","author":"Mochel","year":"2016","journal-title":"Journal of Neurology, Neurosurgery & Psychiatry"},{"issue":"9","key":"10.1016\/bs.irn.2023.05.005_bib131","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/j.braindev.2016.04.005","article-title":"Hypermanganesemia with dystonia, polycythemia and cirrhosis (HMDPC) due to mutation in the SLC30A10 gene","volume":"38","author":"Mukhtiar","year":"2016","journal-title":"Brain & Development"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib132","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0925-4439(02)00142-4","article-title":"Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region","volume":"1588","author":"Naito","year":"2002","journal-title":"Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib133","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.ymgme.2017.12.432","article-title":"Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study","volume":"123","author":"Nestrasil","year":"2018","journal-title":"Molecular Genetics and Metabolism"},{"issue":"594","key":"10.1016\/bs.irn.2023.05.005_bib134","doi-asserted-by":"crossref","first-page":"eaaw1564","DOI":"10.1126\/scitranslmed.aaw1564","article-title":"Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism","volume":"13","author":"Ng","year":"2021","journal-title":"Science Translational Medicine"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib135","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1093\/brain\/awu022","article-title":"Dopamine transporter deficiency syndrome: Phenotypic spectrum from infancy to adulthood","volume":"137","author":"Ng","year":"2014","journal-title":"Brain"},{"key":"10.1016\/bs.irn.2023.05.005_bib136","doi-asserted-by":"crossref","first-page":"68","DOI":"10.3389\/fneur.2022.785841","article-title":"Natural history studies in NCL and their expanding role in drug development: Experiences from CLN2 disease and relevance for clinical trials","volume":"13","author":"Nickel","year":"2022","journal-title":"Frontiers in Neurology"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib137","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/nrneurol.2015.172","article-title":"Monoamine neurotransmitter disorders\u2014Clinical advances and future perspectives","volume":"11","author":"Ng","year":"2015","journal-title":"Nature Reviews Neurology"},{"issue":"8","key":"10.1016\/bs.irn.2023.05.005_bib138","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/S2352-4642(18)30179-2","article-title":"Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: An observational cohort study","volume":"2","author":"Nickel","year":"2018","journal-title":"The Lancet Child & Adolescent Health"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib139","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1021\/acsabm.2c00233","article-title":"Lactose-appended hydroxypropyl-\u03b2-cyclodextrin lowers cholesterol accumulation and alleviates motor dysfunction in Niemann\u2013Pick type C disease model mice","volume":"5","author":"Nishida","year":"2022","journal-title":"ACS Applied Bio Materials"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib140","first-page":"196","article-title":"Removal and efflux of copper from Cu-metallothionein as Cu\/tetrathiomolybdate complex in LEC rats","volume":"88","author":"Ogra","year":"1995","journal-title":"Research Communications in Molecular Pathology and Pharmacology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib141","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ymgme.2010.09.005","article-title":"Membrane transport of sepiapterin and dihydrobiopterin by equilibrative nucleoside transporters: A plausible gateway for the salvage pathway of tetrahydrobiopterin biosynthesis","volume":"102","author":"Ohashi","year":"2011","journal-title":"Molecular Genetics and Metabolism"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib142","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1023\/A:1005455401076","article-title":"Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics","volume":"22","author":"Ohura","year":"1999","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib143","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s13023-020-01379-8","article-title":"International Working Group on Neurotransmitter related Disorders (iNTD). Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies","volume":"15","author":"Opladen","year":"2020","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib144","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.15252\/emmm.201606391","article-title":"Coenzyme A corrects pathological defects in human neurons of PANK 2\u2013associated neurodegeneration","volume":"8","author":"Orellana","year":"2016","journal-title":"EMBO Molecular Medicine"},{"issue":"7","key":"10.1016\/bs.irn.2023.05.005_bib145","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1080\/14737175.2016.1187562","article-title":"Treatment of genetic defects of thiamine transport and metabolism","volume":"16","author":"Ortigoza-Escobar","year":"2016","journal-title":"Expert Review of Neurotherapeutics"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib146","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ana.24998","article-title":"Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors","volume":"82","author":"Ortigoza\u2010Escobar","year":"2017","journal-title":"Annals of Neurology"},{"issue":"10104","key":"10.1016\/bs.irn.2023.05.005_bib147","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","article-title":"Intrathecal 2-hydroxypropyl-\u03b2-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: A non-randomised, open-label, phase 1\u20132 trial","volume":"390","author":"Ory","year":"2017","journal-title":"The Lancet"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib148","doi-asserted-by":"crossref","first-page":"3460","DOI":"10.1002\/hep.32074","article-title":"Designing clinical trials in Wilson\u2019s disease","volume":"74","author":"Ott","year":"2021","journal-title":"Hepatology (Baltimore, Md.)"},{"key":"10.1016\/bs.irn.2023.05.005_bib149","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.omtm.2022.08.004","article-title":"Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice","volume":"26","author":"Padula","year":"2022","journal-title":"Molecular Therapy-Methods & Clinical Development"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib150","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.pediatrneurol.2015.08.001","article-title":"Glucose transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, facts, and the lives of persons with this rare disease","volume":"53","author":"Pascual","year":"2015","journal-title":"Pediatric Neurology"},{"issue":"15","key":"10.1016\/bs.irn.2023.05.005_bib151","doi-asserted-by":"crossref","first-page":"6578","DOI":"10.1523\/JNEUROSCI.22-15-06578.2002","article-title":"Ceruloplasmin regulates iron levels in the CNS and prevents free radical injury","volume":"22","author":"Patel","year":"2002","journal-title":"Journal of Neuroscience"},{"key":"10.1016\/bs.irn.2023.05.005_bib152","unstructured":"Patterson, M. (2020). Niemann-Pick disease type C. GeneReviews\u00ae [Internet]."},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib153","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2012.03.012","article-title":"Recommendations for the diagnosis and management of Niemann\u2013Pick disease type C: An update","volume":"106","author":"Patterson","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib154","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11910-013-0342-7","article-title":"Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS)","volume":"13","author":"Pearson","year":"2013","journal-title":"Current Neurology and Neuroscience Reports"},{"issue":"17","key":"10.1016\/bs.irn.2023.05.005_bib155","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1212\/WNL.0000000000003867","article-title":"Paroxysmal eye\u2013head movements in Glut1 deficiency syndrome","volume":"88","author":"Pearson","year":"2017","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib156","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1002\/jimd.12247","article-title":"AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients","volume":"43","author":"Pearson","year":"2020","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib157","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-021-24524-8","article-title":"Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons","volume":"12","author":"Pearson","year":"2021","journal-title":"Nature Communications"},{"key":"10.1016\/bs.irn.2023.05.005_bib158","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.parkreldis.2018.02.036","article-title":"Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia","volume":"51","author":"Pelucchi","year":"2018","journal-title":"Parkinsonism & Related Disorders"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib159","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.ymgme.2015.06.008","article-title":"Metabolite studies in HIBCH and ECHS1 defects: Implications for screening","volume":"115","author":"Peters","year":"2015","journal-title":"Molecular Genetics and Metabolism"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib160","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0844-0","article-title":"Miglustat in Niemann-Pick disease type C patients: A review","volume":"13","author":"Pineda","year":"2018","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib161","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1194\/jlr.M072140","article-title":"Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells","volume":"58","author":"Pipalia","year":"2017","journal-title":"Journal of Lipid Research"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib162","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s10072-016-2756-x","article-title":"Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment","volume":"38","author":"Poli","year":"2017","journal-title":"Neurological Sciences"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib163","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.ajhg.2012.01.017","article-title":"Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease","volume":"90","author":"Quadri","year":"2012","journal-title":"American Journal of Human Genetics"},{"issue":"15","key":"10.1016\/bs.irn.2023.05.005_bib164","doi-asserted-by":"crossref","first-page":"6988","DOI":"10.1073\/pnas.0912105107","article-title":"Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration","volume":"107","author":"Rana","year":"2010","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/bs.irn.2023.05.005_bib165","doi-asserted-by":"crossref","first-page":"209","DOI":"10.2147\/TACG.S206076","article-title":"GM1 Gangliosidosis: Mechanisms and management","volume":"14","author":"Rha","year":"2021","journal-title":"The Application of Clinical Genetics"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib166","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1056\/NEJMoa1207281","article-title":"Brain dopamine\u2013serotonin vesicular transport disease and its treatment","volume":"368","author":"Rilstone","year":"2013","journal-title":"New England Journal of Medicine"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib167","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ymgme.2018.04.002","article-title":"Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies","volume":"124","author":"Rodan","year":"2018","journal-title":"Molecular Genetics and Metabolism"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib168","doi-asserted-by":"crossref","DOI":"10.1227\/01.NEU.0000245620.24603.1B","article-title":"Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: Technical case report","volume":"59","author":"Roze","year":"2006","journal-title":"Neurosurgery"},{"key":"10.1016\/bs.irn.2023.05.005_bib169","article-title":"Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals","author":"Saida","year":"2022","journal-title":"Genetics in Medicine"},{"key":"10.1016\/bs.irn.2023.05.005_bib170","first-page":"1792","article-title":"Mutations in a thiamine transporter gene and Wernicke\u2019s-like encephalopathy","author":"Satoshi","year":"2009","journal-title":"New England Journal of Medicine"},{"key":"10.1016\/bs.irn.2023.05.005_bib171","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2005.09.015","article-title":"Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice","volume":"86","author":"Scavelli","year":"2005","journal-title":"Molecular Genetics and Metabolism"},{"issue":"8","key":"10.1016\/bs.irn.2023.05.005_bib172","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1212\/01.WNL.0000142083.47927.0A","article-title":"Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency","volume":"63","author":"Schiller","year":"2004","journal-title":"Neurology"},{"issue":"20","key":"10.1016\/bs.irn.2023.05.005_bib173","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1056\/NEJMoa1712649","article-title":"Study of intraventricular cerliponase alfa for CLN2 disease","volume":"378","author":"Schulz","year":"2018","journal-title":"New England Journal of Medicine"},{"key":"10.1016\/bs.irn.2023.05.005_bib174","first-page":"215","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation","volume":"14","author":"Segawa","year":"1976","journal-title":"Advances in Neurology"},{"issue":"10","key":"10.1016\/bs.irn.2023.05.005_bib175","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1002\/mds.25008","article-title":"Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency","volume":"27","author":"Serrano","year":"2012","journal-title":"Movement Disorders"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib176","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-018-06703-2","article-title":"A therapeutic approach to pantothenate kinase associated neurodegeneration","volume":"9","author":"Sharma","year":"2018","journal-title":"Nature Communications"},{"issue":"04","key":"10.1016\/bs.irn.2023.05.005_bib177","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1055\/s-2000-7453","article-title":"A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL","volume":"31","author":"Simonati","year":"2000","journal-title":"Neuropediatrics"},{"key":"10.1016\/bs.irn.2023.05.005_bib178","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.parkreldis.2021.11.030","article-title":"WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia","volume":"94","author":"Skorvanek","year":"2022","journal-title":"Parkinsonism & Related Disorders"},{"issue":"4","key":"10.1016\/bs.irn.2023.05.005_bib179","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.ymgme.2019.02.001","article-title":"Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers","volume":"126","author":"Smith","year":"2019","journal-title":"Molecular Genetics and Metabolism"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib180","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1001\/jamaneurol.2020.3241","article-title":"Association of miglustat with swallowing outcomes in Niemann-Pick disease, type C1","volume":"77","author":"Solomon","year":"2020","journal-title":"JAMA Neurology"},{"issue":"51","key":"10.1016\/bs.irn.2023.05.005_bib209","article-title":"Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation","volume":"11","author":"Spaull","year":"2021","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib181","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.gene.2012.09.106","article-title":"Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis","volume":"512","author":"Sperb","year":"2013","journal-title":"Gene"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib182","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.molcel.2014.11.002","article-title":"Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis","volume":"57","author":"Stefely","year":"2015","journal-title":"Molecular Cell"},{"issue":"5","key":"10.1016\/bs.irn.2023.05.005_bib183","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ejpn.2015.05.008","article-title":"Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone","volume":"19","author":"Tabarki","year":"2015","journal-title":"European Journal of Paediatric Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib184","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/cr.2017.128","article-title":"PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum","volume":"28","author":"Tan","year":"2018","journal-title":"Cell Research"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib185","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1111\/j.1471-4159.2008.05423.x","article-title":"Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase","volume":"106","author":"Th\u00f6ny","year":"2008","journal-title":"Journal of Neurochemistry"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib186","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ana.25751","article-title":"Clinico\u2010genetic, imaging and molecular delineation of COQ8A\u2010ataxia: A multicenter study of 59 patients","volume":"88","author":"Trasch\u00fctz","year":"2020","journal-title":"Annals of Neurology"},{"key":"10.1016\/bs.irn.2023.05.005_bib187","series-title":"GeneReviews\u00ae [Internet]","first-page":"1993","article-title":"Dystonia\/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease","author":"Tuschl","year":"2012"},{"key":"10.1016\/bs.irn.2023.05.005_bib188","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/B978-0-12-410502-7.00013-2","article-title":"Manganese and the brain","volume":"110","author":"Tuschl","year":"2013","journal-title":"International Review of Neurobiology"},{"key":"10.1016\/bs.irn.2023.05.005_bib189","doi-asserted-by":"crossref","first-page":"11601","DOI":"10.1038\/ncomms11601","article-title":"Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia","volume":"7","author":"Tuschl","year":"2016","journal-title":"Nature Communications"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib190","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ymgme.2017.04.011","article-title":"Infantile gangliosidoses: Mapping a timeline of clinical changes","volume":"121","author":"Utz","year":"2017","journal-title":"Molecular Genetics and Metabolism"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib191","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.celrep.2016.03.005","article-title":"PRRT2 is a key component of the Ca2+-dependent neurotransmitter release machinery","volume":"15","author":"Valente","year":"2016","journal-title":"Cell Reports"},{"key":"10.1016\/bs.irn.2023.05.005_bib192","unstructured":"Wang, D., Pascual, J. M., & De Vivo, D. (2018). Glucose transporter type 1 deficiency syndrome."},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib193","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-016-0522-z","article-title":"Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency","volume":"12","author":"Wassenberg","year":"2017","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"16","key":"10.1016\/bs.irn.2023.05.005_bib194","doi-asserted-by":"crossref","first-page":"2579","DOI":"10.3390\/cells11162579","article-title":"Preclinical enzyme replacement therapy with a recombinant \u03b2-galactosidase-lectin fusion for CNS delivery and treatment of GM1-gangliosidosis","volume":"11","author":"Weesner","year":"2022","journal-title":"Cells"},{"issue":"8","key":"10.1016\/bs.irn.2023.05.005_bib195","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1016\/j.cgh.2013.03.012","article-title":"Efficacy and safety of oral chelators in treatment of patients with Wilson disease","volume":"11","author":"Weiss","year":"2013","journal-title":"Clinical Gastroenterology and Hepatology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib196","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/mds.28874","article-title":"Relationship of genotype, phenotype, and treatment in dopa-responsive dystonia: MDSGene review","volume":"37","author":"Weissbach","year":"2022","journal-title":"Movement Disorders: Official Journal of the Movement Disorder Society"},{"key":"10.1016\/bs.irn.2023.05.005_bib197","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.exer.2016.03.023","article-title":"Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease","volume":"146","author":"Whiting","year":"2016","journal-title":"Experimental Eye Research"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib198","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1093\/brain\/awq087","article-title":"Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis","volume":"133","author":"Willemsen","year":"2010","journal-title":"Brain"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib199","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.ymgme.2009.06.009","article-title":"Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study","volume":"98","author":"Wraith","year":"2009","journal-title":"Molecular Genetics and Metabolism"},{"issue":"12","key":"10.1016\/bs.irn.2023.05.005_bib200","doi-asserted-by":"crossref","first-page":"719","DOI":"10.3109\/00207454.2012.715109","article-title":"Oxcarbazepine versus carbamazepine in the treatment of paroxysmal kinesigenic dyskinesia","volume":"122","author":"Yang","year":"2012","journal-title":"The International Journal of Neuroscience"},{"issue":"6","key":"10.1016\/bs.irn.2023.05.005_bib201","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1002\/ana.22640","article-title":"Glut1 deficiency syndrome and erythrocyte glucose uptake assay","volume":"70","author":"Yang","year":"2011","journal-title":"Annals of Neurology"},{"issue":"2","key":"10.1016\/bs.irn.2023.05.005_bib202","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1177\/0883073810377014","article-title":"Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency","volume":"26","author":"Yeung","year":"2011","journal-title":"Journal of Child Neurology"},{"issue":"3","key":"10.1016\/bs.irn.2023.05.005_bib203","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1159\/000008091","article-title":"A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: Administration of fresh-frozen human plasma","volume":"42","author":"Yonekawa","year":"1999","journal-title":"European Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib204","doi-asserted-by":"crossref","first-page":"91","DOI":"10.15252\/emmm.201708361","article-title":"Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia","volume":"10","author":"Zanardi","year":"2018","journal-title":"EMBO Molecular Medicine"},{"issue":"11","key":"10.1016\/bs.irn.2023.05.005_bib205","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/S1474-4422(20)30312-4","article-title":"Monogenic variants in dystonia: an exome-wide sequencing study","volume":"19","author":"Zech","year":"2020","journal-title":"The Lancet. Neurology"},{"issue":"1","key":"10.1016\/bs.irn.2023.05.005_bib206","doi-asserted-by":"crossref","first-page":"96","DOI":"10.15252\/emmm.201606356","article-title":"Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway","volume":"9","author":"Ziosi","year":"2017","journal-title":"EMBO Molecular Medicine"},{"key":"10.1016\/bs.irn.2023.05.005_bib207","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.nbd.2015.10.010","article-title":"Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease","volume":"85","author":"Zizioli","year":"2016","journal-title":"Neurobiology of Disease"},{"issue":"9","key":"10.1016\/bs.irn.2023.05.005_bib208","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1002\/mds.23751","article-title":"Iron\u2010related MRI images in patients with pantothenate kinase\u2013associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial","volume":"26","author":"Zorzi","year":"2011","journal-title":"Movement Disorders"}],"container-title":["International Review of Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0074774223000296?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0074774223000296?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T18:22:49Z","timestamp":1701195769000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0074774223000296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"ISBN":["9780323990264"],"references-count":209,"URL":"https:\/\/doi.org\/10.1016\/bs.irn.2023.05.005","relation":{},"ISSN":["0074-7742"],"issn-type":[{"type":"print","value":"0074-7742"}],"subject":[],"published":{"date-parts":[[2023]]}}}