{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:27:23Z","timestamp":1788870443605,"version":"build-2803163510"},"reference-count":30,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"The Swiss National Science Foundation","award":["3100A0-1199852\/1"],"award-info":[{"award-number":["3100A0-1199852\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.ymgme.2011.05.019","type":"journal-article","created":{"date-parts":[[2011,6,5]],"date-time":"2011-06-05T21:44:36Z","timestamp":1307310276000},"page":"362-368","source":"Crossref","is-referenced-by-count":24,"title":["Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)"],"prefix":"10.1016","volume":"104","author":[{"given":"Patricia","family":"Dill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Trachsel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelis","family":"Jakobs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Th\u00f6ny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2011.05.019_bb0005","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1111\/j.1469-8749.2004.tb00451.x","article-title":"Cerebral folate deficiency","volume":"46","author":"Ramaekers","year":"2004","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0010","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1056\/NEJMoa043160","article-title":"Autoantibodies against folate receptors of the choroid plexus block folate uptake and cause cerebral folate deficiency in childhood","volume":"352","author":"Ramaekers","year":"2005","journal-title":"NEJM"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0015","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.ymgme.2004.12.001","article-title":"Cerebral folate deficiency: life-changing supplementation with folinic acid","volume":"84","author":"Hansen","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0020","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/BF01799831","article-title":"Molecular genetics of methylenetetrahydrofolate reductase deficiency","volume":"19","author":"Rozen","year":"1996","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0025","doi-asserted-by":"crossref","DOI":"10.1002\/ana.410440219","article-title":"Beneficial effect of l-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency","volume":"44","author":"de Koning","year":"1998","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0030","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/med.10055","article-title":"Dihydropteridine reductase deficiency in man: from biology to treatment","volume":"24","author":"Ponzone","year":"2004","journal-title":"Med. Res. Rev."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0035","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/j.cell.2006.09.041","article-title":"Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption","volume":"127","author":"Qiu","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0040","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1620\/tjem.94.3","article-title":"Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid","volume":"94","author":"Arakawa","year":"1968","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0045","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1212\/01.WNL.0000078939.64774.1B","article-title":"Reduced folate transport to the brain in Rett syndrome","volume":"61","author":"Ramaekers","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0050","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1212\/01.WNL.0000082726.08631.E7","article-title":"Cerebrospinal fluid pterins and folates in Aicardi\u2013Gouti\u00e8res syndrome: a new phenotype","volume":"61","author":"Blau","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0055","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.ymgme.2009.08.005","article-title":"Cerebral folate deficiency and CNS inflammatory markers in Alpers disease","volume":"99","author":"Hasselmann","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0060","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.mito.2010.04.001","article-title":"Kearns\u2013Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features","volume":"10","author":"Serrano","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0065","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ajhg.2011.01.007","article-title":"Dihydrofolate reductase deficiency caused by a homozygous DHFR mutation, leads to congenital megaloblastic anemia and severe neurologic disease due to cerebral folate deficiency","volume":"88","author":"Cario","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0070","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ajhg.2011.01.004","article-title":"Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency","volume":"88","author":"Banka","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0075","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1212\/WNL.0b013e3181c679df","article-title":"Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment","volume":"73","author":"Cario","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0080","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2009.08.005","article-title":"Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism","volume":"85","author":"Steinfeld","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0085","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1007\/s10545-010-9196-1","article-title":"Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene","volume":"33","author":"Perez-Duenas","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0090","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1086\/510920","article-title":"Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia","volume":"80","author":"Tekin","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0095","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1111\/j.1399-0004.2008.01004.x","article-title":"Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia","volume":"73","author":"Tekin","year":"2008","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0100","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ejhg.2008.141","article-title":"Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)","volume":"17","author":"Alsmadi","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0105","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1002\/ajmg.a.33962","article-title":"LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations","volume":"155","author":"Sensi","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0110","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1471-2350-12-21","article-title":"Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome","volume":"12","author":"Riazuddin","year":"2011","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0115","series-title":"Laboratory Guide to the Methods in Biochemical Genetics","author":"Blau","year":"2008"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0120","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1212\/WNL.0b013e3181e620ae","article-title":"Clinical and biochemical features of aromatic l-amino acid decarboxylase deficiency","volume":"75","author":"Brun","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2011.05.019_bb0125","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1161\/01.ATV.0000151283.33976.e6","article-title":"Betaine and folate status as cooperative determinants of plasma homocysteine in humans","volume":"25","author":"Holm","year":"2005","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0130","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1096\/fj.02-0456fje","article-title":"Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency","volume":"17","author":"Schwahn","year":"2003","journal-title":"FASEB J."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0135","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1093\/jn\/136.8.2226","article-title":"Evidence of choline depletion and reduced betaine and dimethylglycine with increased homocysteine in plasma of children with cystic fibrosis","volume":"136","author":"Innis","year":"2006","journal-title":"J. Nutr."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0140","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1093\/jn\/108.5.766","article-title":"Effects of dietary folate deficiency on developmental increase of myelin lipids in rat brain","volume":"108","author":"Hirono","year":"1978","journal-title":"J. Nutr."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0145","doi-asserted-by":"crossref","first-page":"2502","DOI":"10.3945\/jn.108.093641","article-title":"Cognitive impairment in folate-deficient rats corresponds to depleted brain phosphatidylcholine and is prevented by dietary methionine without lowering plasma homocysteine","volume":"138","author":"Troen","year":"2008","journal-title":"J. Nutr."},{"key":"10.1016\/j.ymgme.2011.05.019_bb0150","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1159\/000275945","article-title":"Effects of dietary folic acid on the expression of myelin basic protein in the brain and spinal cord of pregnant and lactating rats","volume":"56","author":"Lee","year":"2010","journal-title":"Ann. Nutr. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719211001843?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719211001843?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T08:34:14Z","timestamp":1560242054000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719211001843"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S1096719211001843"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2011.05.019","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}