{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:24:44Z","timestamp":1793381084556,"version":"4.5.0"},"reference-count":96,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T00:00:00Z","timestamp":1741219200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T00:00:00Z","timestamp":1741219200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100008769","name":"Julius-Maximilians-Universit\u00e4t W\u00fcrzburg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008769","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of tissue-nonspecific alkaline phosphatase (TNAP) caused by variants in the\n                    <jats:italic>ALPL<\/jats:italic>\n                    gene. Disease manifestations encompass skeletal hypomineralization with rickets and lung hypoplasia, vitamin B6-dependent seizures, craniosynostosis, and premature loss of deciduous teeth. The clinical presentation can comprise failure to thrive with muscular hypotonia, delayed motor development, and gait disturbances later in childhood. In adults, pseudofractures are a characteristic indicator of severely compromised enzyme activity, but non-canonical symptoms like generalized musculoskeletal pain, weakness, and fatigue, frequently accompanied by neuropsychiatric and gastrointestinal issues are increasingly recognized as key findings in patients with HPP. The diagnosis is based on clinical manifestations in combination with persistently low alkaline phosphatase (ALP) activity, elevated levels of ALP substrates, specifically inorganic pyrophosphate (PPi), pyridoxal 5'-phosphate (PLP) or urine phosphoethanolamine (PEA), and genetic confirmation of a causative\n                    <jats:italic>ALPL<\/jats:italic>\n                    variant. Considering the wide range of manifestations, treatment must be multimodal and tailored to individual needs. The multidisciplinary team for comprehensive management of HPP patients should include expertise to ensure disease state metabolic and musculoskeletal treatment, dental care, neurological and neurosurgical surveillance, pain management, physical therapy, and psychological care. Asfotase alfa as first-in-class enzyme replacement therapy (ERT) for HPP has been shown to improve survival, rickets, and functional outcomes in severely affected children, but further research is needed to refine how enzyme replacement can also address emerging manifestations of the disease. Prospectively, further elucidating the pathophysiology behind the diverse clinical manifestations of HPP is instrumental for improving diagnostic concepts, establishing novel means for substituting enzyme activity, and developing integrative, multimodal care.\n                  <\/jats:p>","DOI":"10.1007\/s00223-025-01356-y","type":"journal-article","created":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T08:23:54Z","timestamp":1741249434000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Diagnosis and Treatment of Hypophosphatasia"],"prefix":"10.1007","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1154-3388","authenticated-orcid":false,"given":"L.","family":"Seefried","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Genest","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Hofmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. L.","family":"Brandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8147-7315","authenticated-orcid":false,"given":"E.","family":"Rush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,6]]},"reference":[{"issue":"4","key":"1356_CR1","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1007\/s00223-015-0079-1","volume":"98","author":"JL Millan","year":"2016","unstructured":"Millan JL, Whyte MP (2016) Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int 98(4):398\u2013416","journal-title":"Calcif Tissue Int"},{"key":"1356_CR2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.177","author":"E Mornet","year":"2014","unstructured":"Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M (2014) Clinical utility gene card for: hypophosphatasia - update 2013. Eur J Human Genet: EJHG. https:\/\/doi.org\/10.1038\/ejhg.2013.177","journal-title":"Eur J Human Genet: EJHG."},{"issue":"4","key":"1356_CR3","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.14","volume":"12","author":"MP Whyte","year":"2016","unstructured":"Whyte MP (2016) Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12(4):233\u2013246","journal-title":"Nat Rev Endocrinol"},{"issue":"5","key":"1356_CR4","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/0002-9343(57)90124-9","volume":"22","author":"FD Hypophosphatasia","year":"1957","unstructured":"Hypophosphatasia FD (1957) Am J Med 22(5):730\u2013746","journal-title":"Am J Med"},{"key":"1356_CR5","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.bone.2015.02.022","volume":"75","author":"MP Whyte","year":"2015","unstructured":"Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC et al (2015) Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75:229\u2013239","journal-title":"Bone"},{"key":"1356_CR6","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.bone.2017.02.011","volume":"102","author":"MP Whyte","year":"2017","unstructured":"Whyte MP (2017) Hypophosphatasia: An overview For 2017. Bone 102:15\u201325","journal-title":"Bone"},{"key":"1356_CR7","doi-asserted-by":"publisher","DOI":"10.1093\/jbmrpl\/ziae124","author":"C Tornero","year":"2024","unstructured":"Tornero C, de Miguel E, Navarro-Comp\u00e1n V, Balsa A, Aguado P (2024) Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study. JBMR Plus. https:\/\/doi.org\/10.1093\/jbmrpl\/ziae124","journal-title":"JBMR Plus"},{"key":"1356_CR8","doi-asserted-by":"publisher","DOI":"10.3390\/molecules29246049","author":"H Imamura","year":"2024","unstructured":"Imamura H, Adachi T, Zhu W, Yamamoto T, Kanamura N, Onoda H et al (2024) Raman spectroscopic analysis of molecular structure and mechanical properties of hypophosphatasia primary tooth. Molecules. https:\/\/doi.org\/10.3390\/molecules29246049","journal-title":"Molecules"},{"issue":"1","key":"1356_CR9","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/cns.13207","volume":"26","author":"CA Calder\u00f3n-Ospina","year":"2020","unstructured":"Calder\u00f3n-Ospina CA, Nava-Mesa MO (2020) B Vitamins in the nervous system: Current knowledge of the biochemical modes of action and synergies of thiamine, pyridoxine, and cobalamin. CNS Neurosci Ther 26(1):5\u201313","journal-title":"CNS Neurosci Ther"},{"key":"1356_CR10","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-015-0079-1","author":"JL Millan","year":"2015","unstructured":"Millan JL, Whyte MP (2015) Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. https:\/\/doi.org\/10.1007\/s00223-015-0079-1","journal-title":"Calcif Tissue Int"},{"key":"1356_CR11","doi-asserted-by":"publisher","DOI":"10.3390\/biom10121648","author":"D Liedtke","year":"2020","unstructured":"Liedtke D, Hofmann C, Jakob F, Klopocki E, Graser S (2020) Tissue-nonspecific alkaline phosphatase-a gatekeeper of physiological conditions in health and a modulator of biological environments in disease. Biomolecules. https:\/\/doi.org\/10.3390\/biom10121648","journal-title":"Biomolecules"},{"key":"1356_CR12","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa324","author":"K Kuehn","year":"2020","unstructured":"Kuehn K, Hahn A, Seefried L (2020) Mineral intake and clinical symptoms in adult patients with hypophosphatasia. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/clinem\/dgaa324","journal-title":"J Clin Endocrinol Metab"},{"key":"1356_CR13","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvad150","author":"K Kuehn","year":"2023","unstructured":"Kuehn K, Hahn A, Seefried L (2023) Impact of restricted phosphorus, calcium-adjusted diet on musculoskeletal and mental health in hypophosphatasia. J Endocr Soc. https:\/\/doi.org\/10.1210\/jendso\/bvad150","journal-title":"J Endocr Soc."},{"issue":"2","key":"1356_CR14","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1007\/s00198-018-4691-6","volume":"30","author":"JM Colazo","year":"2019","unstructured":"Colazo JM, Hu JR, Dahir KM, Simmons JH (2019) Neurological symptoms in hypophosphatasia. Osteoporos Int 30(2):469\u2013480","journal-title":"Osteoporos Int"},{"key":"1356_CR15","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2024.117034","volume":"181","author":"M Behanova","year":"2024","unstructured":"Behanova M, Medibach A, Haschka J, Kraus D, Raimann A, Mindler GT et al (2024) Health-related quality of life and fatigue in adult rare bone disease patients: A cross-sectional study from Austria. Bone 181:117034","journal-title":"Bone"},{"key":"1356_CR16","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.bone.2015.05.033","volume":"79","author":"S Graser","year":"2015","unstructured":"Graser S, Mentrup B, Schneider D, Klein-Hitpass L, Jakob F, Hofmann C (2015) Overexpression of tissue-nonspecific alkaline phosphatase increases the expression of neurogenic differentiation markers in the human SH-SY5Y neuroblastoma cell line. Bone 79:150\u2013161","journal-title":"Bone"},{"key":"1356_CR17","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22020919","author":"S Graser","year":"2021","unstructured":"Graser S, Liedtke D, Jakob F (2021) TNAP as a new player in chronic inflammatory conditions and metabolism. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms22020919","journal-title":"Int J Mol Sci"},{"issue":"6","key":"1356_CR18","doi-asserted-by":"crossref","first-page":"442","DOI":"10.3177\/jnsv.58.442","volume":"58","author":"M Haraikawa","year":"2012","unstructured":"Haraikawa M, Tanabe R, Sogabe N, Sugimoto A, Kawamura Y, Michigami T et al (2012) A study of the association between serum bone-specific alkaline phosphatase and serum phosphorus concentration or dietary phosphorus intake. J Nutr Sci Vitaminol (Tokyo) 58(6):442\u2013445","journal-title":"J Nutr Sci Vitaminol (Tokyo)"},{"issue":"2","key":"1356_CR19","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/ibd.21381","volume":"17","author":"R L\u00f3pez-Posadas","year":"2011","unstructured":"L\u00f3pez-Posadas R, Gonz\u00e1lez R, Ballester I, Mart\u00ednez-Moya P, Romero-Calvo I, Su\u00e1rez MD et al (2011) Tissue-nonspecific alkaline phosphatase is activated in enterocytes by oxidative stress via changes in glycosylation. Inflamm Bowel Dis 17(2):543\u2013556","journal-title":"Inflamm Bowel Dis"},{"key":"1356_CR20","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201708483","author":"M Parlato","year":"2018","unstructured":"Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH et al (2018) Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis. EMBO Mol Med. https:\/\/doi.org\/10.15252\/emmm.201708483","journal-title":"EMBO Mol Med"},{"issue":"19","key":"1356_CR21","doi-asserted-by":"crossref","first-page":"4143","DOI":"10.1093\/hmg\/ddw248","volume":"25","author":"\u00c1 Sebasti\u00e1n-Serrano","year":"2016","unstructured":"Sebasti\u00e1n-Serrano \u00c1, Engel T, de Diego-Garc\u00eda L, Olivos-Or\u00e9 LA, Arribas-Bl\u00e1zquez M, Mart\u00ednez-Frailes C et al (2016) Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. Hum Mol Genet 25(19):4143\u20134156","journal-title":"Hum Mol Genet"},{"key":"1356_CR22","doi-asserted-by":"crossref","first-page":"170","DOI":"10.3389\/fphar.2018.00170","volume":"9","author":"\u00c1 Sebasti\u00e1n-Serrano","year":"2018","unstructured":"Sebasti\u00e1n-Serrano \u00c1, de Diego-Garc\u00eda L, Henshall DC, Engel T, D\u00edaz-Hern\u00e1ndez M (2018) Haploinsufficient TNAP mice display decreased extracellular ATP levels and expression of pannexin-1 channels. Front Pharmacol 9:170","journal-title":"Front Pharmacol"},{"key":"1356_CR23","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1471-2350-10-51","volume":"10","author":"D Fauvert","year":"2009","unstructured":"Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL et al (2009) Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 10:51","journal-title":"BMC Med Genet"},{"issue":"5","key":"1356_CR24","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.bone.2009.07.009","volume":"45","author":"C Halling Linder","year":"2009","unstructured":"Halling Linder C, Narisawa S, Millan JL, Magnusson P (2009) Glycosylation differences contribute to distinct catalytic properties among bone alkaline phosphatase isoforms. Bone 45(5):987\u2013993","journal-title":"Bone"},{"key":"1356_CR25","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvaa084","author":"DR Tilden","year":"2020","unstructured":"Tilden DR, Sheehan JH, Newman JH, Meiler J, Capra JA, Ramirez A et al (2020) Phenotypic profiling in subjects heterozygous for 1 of 2 rare variants in the hypophosphatasia gene (ALPL). J Endocr Soc. https:\/\/doi.org\/10.1210\/jendso\/bvaa084","journal-title":"J Endocr Soc."},{"key":"1356_CR26","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116947","volume":"178","author":"MR Farman","year":"2024","unstructured":"Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno G et al (2024) The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone 178:116947","journal-title":"Bone"},{"issue":"11","key":"1356_CR27","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1002\/jbmr.4130","volume":"35","author":"L Seefried","year":"2020","unstructured":"Seefried L, Dahir K, Petryk A, H\u00f6gler W, Linglart A, Martos-Moreno G et al (2020) Burden of illness in adults with hypophosphatasia: data from the global hypophosphatasia patient registry. J Bone Miner Res 35(11):2171\u20132178","journal-title":"J Bone Miner Res"},{"key":"1356_CR28","doi-asserted-by":"publisher","DOI":"10.1530\/endoabs.81.P548","author":"K Dahir","year":"2022","unstructured":"Dahir K, Angel M, Linglart A (2022) Disease characteristics, disability, and quality of life in adult HPP patients with muscular symptoms and pain without skeletal manifestations-a cross-sectional analysis. Endocrine. https:\/\/doi.org\/10.1530\/endoabs.81.P548","journal-title":"Endocrine"},{"issue":"1","key":"1356_CR29","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1186\/s13023-022-02393-8","volume":"17","author":"KM Dahir","year":"2022","unstructured":"Dahir KM, Seefried L, Kishnani PS, Petryk A, H\u00f6gler W, Linglart A et al (2022) Clinical profiles of treated and untreated adults with hypophosphatasia in the global HPP registry. Orphanet J Rare Dis 17(1):277","journal-title":"Orphanet J Rare Dis"},{"key":"1356_CR30","doi-asserted-by":"crossref","first-page":"1138599","DOI":"10.3389\/fendo.2023.1138599","volume":"14","author":"KM Dahir","year":"2023","unstructured":"Dahir KM, Kishnani PS, Martos-Moreno G, Linglart A, Petryk A, Rockman-Greenberg C et al (2023) Impact of muscular symptoms and\/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: a cross-sectional analysis from the Global HPP Registry. Front Endocrinol (Lausanne) 14:1138599","journal-title":"Front Endocrinol (Lausanne)"},{"key":"1356_CR31","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-019-2420-8","author":"W H\u00f6gler","year":"2019","unstructured":"H\u00f6gler W, Langman C, da Gomes SH, Fang S, Linglart A, Ozono K et al (2019) Diagnostic delay is common among patients with hypophosphatasia initial findings from a longitudinal prospective global registry. BMC Musculoskelet Disord. https:\/\/doi.org\/10.1186\/s12891-019-2420-8","journal-title":"BMC Musculoskelet Disord"},{"issue":"1","key":"1356_CR32","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1186\/s13023-020-01500-x","volume":"15","author":"M Vogt","year":"2020","unstructured":"Vogt M, Girschick H, Schweitzer T, Benoit C, Holl-Wieden A, Seefried L et al (2020) Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis 15(1):212","journal-title":"Orphanet J Rare Dis"},{"key":"1356_CR33","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-019-2420-8","author":"W H\u00f6gler","year":"2019","unstructured":"H\u00f6gler W, Langman C (2019) Silva HGd, Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord. https:\/\/doi.org\/10.1186\/s12891-019-2420-8","journal-title":"BMC Musculoskelet Disord"},{"issue":"3","key":"1356_CR34","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00198-023-06844-1","volume":"35","author":"AA Khan","year":"2024","unstructured":"Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K et al (2024) Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int 35(3):431\u2013438","journal-title":"Osteoporos Int"},{"issue":"1","key":"1356_CR35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00198-023-06843-2","volume":"35","author":"E Rush","year":"2024","unstructured":"Rush E, Brandi ML, Khan A, Ali DS, Al-Alwani H, Almonaei K et al (2024) Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporos Int 35(1):1\u201310","journal-title":"Osteoporos Int"},{"issue":"3","key":"1356_CR36","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s00198-023-06859-8","volume":"35","author":"ML Brandi","year":"2024","unstructured":"Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K et al (2024) The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance. Osteoporos Int 35(3):439\u2013449","journal-title":"Osteoporos Int"},{"key":"1356_CR37","doi-asserted-by":"crossref","unstructured":"Seefried L, Genest FJO. Symptoms and diagnosis of hypophosphatasia in adults. 2017; 26(1):36-41","DOI":"10.1055\/s-0037-1622076"},{"issue":"3","key":"1356_CR38","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00223-022-01039-y","volume":"112","author":"JA Riancho","year":"2023","unstructured":"Riancho JA (2023) Diagnostic approach to patients with low serum alkaline phosphatase. Calcif Tissue Int 112(3):289\u2013296","journal-title":"Calcif Tissue Int"},{"issue":"52","key":"1356_CR39","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/S0929-693X(18)30015-0","volume":"24","author":"I Gennero","year":"2017","unstructured":"Gennero I, Conte-Auriol F, Salles JP (2017) Laboratory diagnosis of hypophosphatasia. Arch Pediatr 24(52):557\u2013560","journal-title":"Arch Pediatr"},{"issue":"7410","key":"1356_CR40","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/S0140-6736(65)91422-4","volume":"2","author":"RG Russell","year":"1965","unstructured":"Russell RG (1965) Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet 2(7410):461\u2013464","journal-title":"Lancet"},{"issue":"3","key":"1356_CR41","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s00216-022-04430-8","volume":"415","author":"S Lundkvist","year":"2023","unstructured":"Lundkvist S, Niaziorimi F, Szeri F, Caffet M, Terry SF, Johansson G et al (2023) A new enzymatic assay to quantify inorganic pyrophosphate in plasma. Anal Bioanal Chem 415(3):481\u2013492","journal-title":"Anal Bioanal Chem"},{"issue":"1","key":"1356_CR42","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1210\/clinem\/dgab615","volume":"107","author":"E Bernhard","year":"2021","unstructured":"Bernhard E, Nitschke Y, Khursigara G, Sabbagh Y, Wang Y, Rutsch F (2021) A reference range for plasma levels of inorganic pyrophosphate in children using the ATP sulfurylase method. J Clin Endocrinol Metab 107(1):109\u2013118","journal-title":"J Clin Endocrinol Metab"},{"key":"1356_CR43","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2024.117033","volume":"181","author":"MP Whyte","year":"2024","unstructured":"Whyte MP, Zhang F, Mack KE, Wenkert D, Gottesman GS, Ericson KL et al (2024) Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase\u2019s role in vitamin B6 metabolism. Bone 181:117033","journal-title":"Bone"},{"issue":"10","key":"1356_CR44","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.1002\/cctc.202100163","volume":"13","author":"T Gerlach","year":"2021","unstructured":"Gerlach T, Nugroho DL, Rother D (2021) The effect of visible light on the catalytic activity of PLP-dependent enzymes. ChemCatChem 13(10):2398\u20132406","journal-title":"ChemCatChem"},{"issue":"3","key":"1356_CR45","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s11302-012-9309-4","volume":"8","author":"H Zimmermann","year":"2012","unstructured":"Zimmermann H, Zebisch M, Strater N (2012) Cellular function and molecular structure of ecto-nucleotidases. Purinergic Signal 8(3):437\u2013502","journal-title":"Purinergic Signal"},{"issue":"2","key":"1356_CR46","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/s41431-020-00732-6","volume":"29","author":"E Mornet","year":"2021","unstructured":"Mornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, Lavaud N et al (2021) Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. Eur J Human Genet: EJHG 29(2):289\u2013299","journal-title":"Eur J Human Genet: EJHG"},{"key":"1356_CR47","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jpeds.2019.01.049","volume":"209","author":"MP Whyte","year":"2019","unstructured":"Whyte MP, Leung E, Wilcox WR, Liese J, Argente J, Martos-Moreno G et al (2019) Natural history of perinatal and infantile hypophosphatasia: a retrospective study. J Pediatr 209:116\u201324.e4","journal-title":"J Pediatr"},{"issue":"1","key":"1356_CR48","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.bone.2013.01.024","volume":"54","author":"KE Berkseth","year":"2013","unstructured":"Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA (2013) Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 54(1):21\u201327","journal-title":"Bone"},{"key":"1356_CR49","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2020.115795","volume":"144","author":"R Desborough","year":"2021","unstructured":"Desborough R, Nicklin P, Gossiel F, Balasubramanian M, Walsh JS, Petryk A et al (2021) Clinical and biochemical characteristics of adults with hypophosphatasia attending a metabolic bone clinic. Bone 144:115795","journal-title":"Bone"},{"key":"1356_CR50","doi-asserted-by":"crossref","unstructured":"Genest F, Seefried L. Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia-not atypical at all. Osteoporos Int. 2018.","DOI":"10.1007\/s00198-018-4552-3"},{"key":"1356_CR51","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-018-4552-3","author":"F Genest","year":"2018","unstructured":"Genest F, Seefried L (2018) Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia\u2014not atypical at all. Osteoporo Int. https:\/\/doi.org\/10.1007\/s00198-018-4552-3","journal-title":"Osteoporo Int"},{"key":"1356_CR52","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-019-2420-8","author":"W Hogler","year":"2019","unstructured":"Hogler W, Langman C, Gomes da Silva H, Fang S, Linglart A, Ozono K et al (2019) Diagnostic delay is common among patients with hypophosphatasia initial findings from a longitudinal prospective global registry. BMC Musculoskelet Disord. https:\/\/doi.org\/10.1186\/s12891-019-2420-8","journal-title":"BMC Musculoskelet Disord"},{"key":"1356_CR53","doi-asserted-by":"crossref","unstructured":"Mornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, Lavaud N, et al. Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. European journal of human genetics : EJHG. 2020.","DOI":"10.1038\/s41431-020-00732-6"},{"issue":"3","key":"1356_CR54","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/jcb.21885","volume":"105","author":"JD Kaunitz","year":"2008","unstructured":"Kaunitz JD, Yamaguchi DT (2008) TNAP, TrAP, ecto-purinergic signaling, and bone remodeling. J Cell Biochem 105(3):655\u2013662","journal-title":"J Cell Biochem"},{"issue":"12","key":"1356_CR55","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1111\/jcpe.13718","volume":"49","author":"M Weider","year":"2022","unstructured":"Weider M, Schlagenhauf U, Seefried L (2022) Oral health status of adult hypophosphatasia patients: a cross-sectional study. J Clin Periodontol 49(12):1253\u20131261","journal-title":"J Clin Periodontol"},{"key":"1356_CR56","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.bonr.2016.08.004","volume":"5","author":"M Mori","year":"2016","unstructured":"Mori M, DeArmey SL, Weber TJ, Kishnani PS (2016) Case series: Odontohypophosphatasia or missed diagnosis of childhood\/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth. Bone reports 5:228\u2013232","journal-title":"Bone reports"},{"issue":"52","key":"1356_CR57","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/S0929-693X(18)30021-6","volume":"24","author":"C Fonta","year":"2017","unstructured":"Fonta C, Salles JP (2017) Neuromuscular features of hypophosphatasia. Arch Pediatr 24(52):585\u2013588","journal-title":"Arch Pediatr"},{"issue":"9","key":"1356_CR58","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.85971","volume":"1","author":"MP Whyte","year":"2016","unstructured":"Whyte MP, Madson KL, Phillips D, Reeves AL, McAlister WH, Yakimoski A et al (2016) Asfotase alfa therapy for children with hypophosphatasia. JCI Insight 1(9):e85971","journal-title":"JCI Insight"},{"issue":"1","key":"1356_CR59","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1210\/jc.2015-3462","volume":"101","author":"MP Whyte","year":"2016","unstructured":"Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A et al (2016) Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrinol Metab 101(1):334\u2013342","journal-title":"J Clin Endocrinol Metab"},{"issue":"52","key":"1356_CR60","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/S0929-693X(18)30022-8","volume":"24","author":"F Di Rocco","year":"2017","unstructured":"Di Rocco F, Baujat G, Cormier-Daire V, Rothenbuhler A, Linglart A (2017) Craniosynostosis and hypophosphatasia. Arch Pediatr 24(52):589\u2013592","journal-title":"Arch Pediatr"},{"issue":"10","key":"1356_CR61","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1002\/jbmr.3226","volume":"32","author":"JR Shapiro","year":"2017","unstructured":"Shapiro JR, Lewiecki EM (2017) Hypophosphatasia in adults: clinical assessment and treatment considerations. J Bone Miner Res 32(10):1977\u20131980","journal-title":"J Bone Miner Res"},{"issue":"12","key":"1356_CR62","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.1007\/s00198-021-06025-y","volume":"32","author":"L Seefried","year":"2021","unstructured":"Seefried L, Rak D, Petryk A, Genest F (2021) Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa. Osteoporos Int 32(12):2505\u20132513","journal-title":"Osteoporos Int"},{"issue":"1","key":"1356_CR63","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/s13023-024-03048-6","volume":"19","author":"PS Kishnani","year":"2024","unstructured":"Kishnani PS, Martos-Moreno G, Linglart A, Petryk A, Messali A, Fang S et al (2024) Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet J Rare Dis 19(1):109","journal-title":"Orphanet J Rare Dis"},{"key":"1356_CR64","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116856","volume":"175","author":"L Seefried","year":"2023","unstructured":"Seefried L, Genest F, Petryk A, Veith M (2023) Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment. Bone 175:116856","journal-title":"Bone"},{"key":"1356_CR65","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2020.115794","volume":"143","author":"J St\u00fcrznickel","year":"2021","unstructured":"St\u00fcrznickel J, Schmidt FN, von Vopelius E, Delsmann MM, Schmidt C, Jandl NM et al (2021) Bone healing and reactivation of remodeling under asfotase alfa therapy in adult patients with pediatric-onset hypophosphatasia. Bone 143:115794","journal-title":"Bone"},{"issue":"9","key":"1356_CR66","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10395","volume":"4","author":"F Genest","year":"2020","unstructured":"Genest F, Rak D, Petryk A, Seefried L (2020) Physical function and health-related quality of life in adults treated with Asfotase Alfa for pediatric-onset hypophosphatasia. JBMR Plus 4(9):e10395","journal-title":"JBMR Plus"},{"issue":"10","key":"1356_CR67","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1093\/jbmr\/zjae128","volume":"39","author":"KM Dahir","year":"2024","unstructured":"Dahir KM, Shannon A, Dunn D, Voegtli W, Dong Q, Hasan J, Pradhan R, Pelto R, Pan WJ (2024) Safety, pharmacokinetics, and pharmacodynamics of Efzimfotase Alfa, a second-generation enzyme replacement therapy: phase 1, dose-escalation study in adults with hypophosphatasia. J Bone Miner Res 39(10):1412\u201314234","journal-title":"J Bone Miner Res"},{"issue":"5","key":"1356_CR68","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S8756-3282(99)00203-3","volume":"25","author":"HJ Girschick","year":"1999","unstructured":"Girschick HJ, Seyberth HW, Huppertz HI (1999) Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone 25(5):603\u2013607","journal-title":"Bone"},{"key":"1356_CR69","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1750-1172-1-24","volume":"1","author":"HJ Girschick","year":"2006","unstructured":"Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M et al (2006) Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 1:24","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"1356_CR70","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1186\/s13023-022-02572-7","volume":"17","author":"J Feurstein","year":"2022","unstructured":"Feurstein J, Behanova M, Haschka J, Roetzer K, Uyanik G, Hadzimuratovic B et al (2022) Identifying adult hypophosphatasia in the rheumatology unit. Orphanet J Rare Dis 17(1):435","journal-title":"Orphanet J Rare Dis"},{"key":"1356_CR71","unstructured":"Genest F, Luksche N, Jakob F, Seefried L. Bone Mineral Density in Adult Hypophosphatasia. J Bone Miner Res. 2015"},{"issue":"4","key":"1356_CR72","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/jbmr.3928","volume":"35","author":"N Alonso","year":"2020","unstructured":"Alonso N, Larraz-Prieto B, Berg K, Lambert Z, Redmond P, Harris SE et al (2020) Loss-of-function mutations in the ALPL gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase. J Bone Miner Res 35(4):657\u2013661","journal-title":"J Bone Miner Res"},{"key":"1356_CR73","volume":"15","author":"N Hepp","year":"2021","unstructured":"Hepp N, Frederiksen AL, Duno M, Pr\u00e6st Holm J, Rye J\u00f8rgensen N, Beck Jensen JE (2021) Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; data from an endocrinological outpatient clinic in Denmark. Bone Rep 15:101101","journal-title":"Bone Rep"},{"key":"1356_CR74","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac147","author":"R Oheim","year":"2022","unstructured":"Oheim R, Tsourdi E, Seefried L, Beller G (2022) Genetic diagnostics in routine osteological assessment of adult low bone mass disorders. J Clin Endocrinol Metabol. https:\/\/doi.org\/10.1210\/clinem\/dgac147","journal-title":"J Clin Endocrinol Metabol"},{"key":"1356_CR75","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-020-05612-9","author":"F Genest","year":"2021","unstructured":"Genest F, Clau\u00dfen L, Rak D, Seefried L (2021) Bone mineral density and fracture risk in adult patients with hypophosphatasia. Osteoporo Int. https:\/\/doi.org\/10.1007\/s00198-020-05612-9","journal-title":"Osteoporo Int"},{"key":"1356_CR76","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-018-4571-0","author":"L Lopez-Delgado","year":"2018","unstructured":"Lopez-Delgado L, Riancho-Zarrabeitia L, Garcia-Unzueta MT, Tenorio JA, Garcia-Hoyos M, Lapunzina P et al (2018) Abnormal bone turnover in individuals with low serum alkaline phosphatase. Osteoporos Int. https:\/\/doi.org\/10.1007\/s00198-018-4571-0","journal-title":"Osteoporos Int"},{"issue":"6","key":"1356_CR77","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1359\/jbmr.081253","volume":"24","author":"MP Whyte","year":"2009","unstructured":"Whyte MP (2009) Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 24(6):1132\u20131134","journal-title":"J Bone Miner Res"},{"issue":"5","key":"1356_CR78","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1002\/jbmr.1565","volume":"27","author":"RA Sutton","year":"2012","unstructured":"Sutton RA, Mumm S, Coburn SP, Ericson KL, Whyte MP (2012) \u201cAtypical femoral fractures\u201d during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 27(5):987\u2013994","journal-title":"J Bone Miner Res"},{"issue":"3","key":"1356_CR79","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1007\/s00223-011-9562-5","volume":"90","author":"M Laroche","year":"2012","unstructured":"Laroche M (2012) Failure of teriparatide in treatment of bone complications of adult hypophosphatasia. Calcif Tissue Int 90(3):250","journal-title":"Calcif Tissue Int"},{"issue":"8","key":"1356_CR80","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10215","volume":"3","author":"T Schmidt","year":"2019","unstructured":"Schmidt T, Rolvien T, Linke C, Jandl NM, Oheim R, Amling M et al (2019) Outcome of teriparatide treatment on fracture healing complications and symptomatic bone marrow Edema in four adult patients with hypophosphatasia. JBMR Plus 3(8):e10215","journal-title":"JBMR Plus"},{"issue":"4","key":"1356_CR81","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1210\/jc.2006-1902","volume":"92","author":"MP Whyte","year":"2007","unstructured":"Whyte MP, Mumm S, Deal C (2007) Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 92(4):1203\u20131208","journal-title":"J Clin Endocrinol Metab"},{"key":"1356_CR82","unstructured":"Seefried L, Rak D, Petryk A, ... Bone Turnover and Mineral Metabolism in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Treated With Asfotase Alfa: \u2026 ST, HOBOKEN 07030\u20135774, NJ USA; 2020."},{"issue":"9","key":"1356_CR83","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1007\/s00198-017-4087-z","volume":"28","author":"T Schmidt","year":"2017","unstructured":"Schmidt T, Mussawy H, Rolvien T, Hawellek T, Hubert J, Ruther W et al (2017) Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. Osteoporos Int 28(9):2653\u20132662","journal-title":"Osteoporos Int"},{"issue":"10","key":"1356_CR84","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1016\/j.metabol.2016.07.006","volume":"65","author":"TJ Weber","year":"2016","unstructured":"Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS (2016) Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabol Clin Exp. 65(10):1522\u20131530","journal-title":"Metabol Clin Exp."},{"issue":"1","key":"1356_CR85","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1186\/s13023-019-1167-5","volume":"14","author":"ET Rush","year":"2019","unstructured":"Rush ET, Moseley S, Petryk A (2019) Burden of disease in pediatric patients with hypophosphatasia: results from the HPP impact patient survey and the HPP outcomes study telephone interview. Orphanet J Rare Dis 14(1):201","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"1356_CR86","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s11914-022-00739-6","volume":"20","author":"AS Cento","year":"2022","unstructured":"Cento AS, Leigheb M, Caretti G, Penna F (2022) Exercise and exercise mimetics for the treatment of musculoskeletal disorders. Curr Osteoporos Rep 20(5):249\u2013259","journal-title":"Curr Osteoporos Rep"},{"issue":"1","key":"1356_CR87","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.berh.2015.04.022","volume":"29","author":"KR Ambrose","year":"2015","unstructured":"Ambrose KR, Golightly YM (2015) Physical exercise as non-pharmacological treatment of chronic pain: why and when. Best Pract Res Clin Rheumatol 29(1):120\u2013130","journal-title":"Best Pract Res Clin Rheumatol"},{"issue":"4","key":"1356_CR88","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/msc.1191","volume":"15","author":"J Booth","year":"2017","unstructured":"Booth J, Moseley GL, Schiltenwolf M, Cashin A, Davies M, Hubscher M (2017) Exercise for chronic musculoskeletal pain: a biopsychosocial approach. Musculoskeletal Care 15(4):413\u2013421","journal-title":"Musculoskeletal Care"},{"issue":"16","key":"1356_CR89","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1056\/NEJMoa1307337","volume":"369","author":"SL Weinstein","year":"2013","unstructured":"Weinstein SL, Dolan LA, Wright JG, Dobbs MB (2013) Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med 369(16):1512\u20131521","journal-title":"N Engl J Med"},{"issue":"1","key":"1356_CR90","doi-asserted-by":"crossref","first-page":"16","DOI":"10.57582\/IJBF.230301.016","volume":"3","author":"L Seefried","year":"2023","unstructured":"Seefried L (2023) Treatment of hypophosphatasia. Int J Bone Fragil 3(1):16\u201321","journal-title":"Int J Bone Fragil"},{"issue":"4","key":"1356_CR91","doi-asserted-by":"crossref","first-page":"S41","DOI":"10.3109\/03008209509116832","volume":"31","author":"JC Weintrob","year":"1995","unstructured":"Weintrob JC (1995) Orthotic management for children with osteogenesis imperfecta. Connect Tissue Res 31(4):S41\u2013S43","journal-title":"Connect Tissue Res"},{"issue":"10","key":"1356_CR92","first-page":"570","volume":"98","author":"RA Sprouse","year":"2018","unstructured":"Sprouse RA, McLaughlin AM, Harris GD (2018) Braces and splints for common musculoskeletal conditions. Am Fam Phys 98(10):570\u2013576","journal-title":"Am Fam Phys"},{"key":"1356_CR93","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2021.116204","volume":"154","author":"MP Whyte","year":"2022","unstructured":"Whyte MP, Zhang F, Wenkert D, Mack KE, Bijanki VN, Ericson KL et al (2022) Hypophosphatasia: Vitamin B(6) status of affected children and adults. Bone 154:116204","journal-title":"Bone"},{"key":"1356_CR94","doi-asserted-by":"publisher","DOI":"10.3390\/children11010049","author":"GL Di Gennaro","year":"2023","unstructured":"Di Gennaro GL, Trisolino G, Stallone S, Ramella M, Rocca G, Gallone G (2023) Guided growth technique for epiphysiodesis and hemiepiphysiodesis: safety and performance evaluation. Children (Basel). https:\/\/doi.org\/10.3390\/children11010049","journal-title":"Children (Basel)."},{"issue":"9","key":"1356_CR95","doi-asserted-by":"crossref","first-page":"528","DOI":"10.5435\/00124635-201009000-00004","volume":"18","author":"N Saran","year":"2010","unstructured":"Saran N, Rathjen KE (2010) Guided growth for the correction of pediatric lower limb angular deformity. J Am Acad Orthop Surg 18(9):528\u2013536","journal-title":"J Am Acad Orthop Surg"},{"issue":"7","key":"1356_CR96","doi-asserted-by":"crossref","first-page":"981","DOI":"10.2106\/00004623-198668070-00004","volume":"68","author":"JD Coe","year":"1986","unstructured":"Coe JD, Murphy WA, Whyte MP (1986) Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am 68(7):981\u2013990","journal-title":"J Bone Joint Surg Am"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-025-01356-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-025-01356-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-025-01356-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T13:21:52Z","timestamp":1766755312000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-025-01356-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,6]]},"references-count":96,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1356"],"URL":"https:\/\/doi.org\/10.1007\/s00223-025-01356-y","relation":{},"ISSN":["1432-0827"],"issn-type":[{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,6]]},"assertion":[{"value":"24 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 February 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"L. Seefried has received honoraria for lectures and advice from Amgen, AM-Pharma, Alexion, Biomarin, Chiesi, GedeonRichter, GSK\/Haleon, Inozyme, Ipsen, KyowaKirin, Medi, Novartis, Stadapharm, Theramex, and Ultragenyx and research grants to the Institution (University of W\u00fcrzburg) from Alexion, Chiesi, Kyowa Kirin. F. Genest has received honoraria for lectures from Abbvie, Alexion, and Lilly. E.T. Rush has received consulting fees from Alexion AstraZeneca Rare Disease, Ultragenyx Pharmaceuticals, Kyowa Kirin, Inozyme Pharma, Ipsen SA, Be Bio, Inc, honoraria for lectures from Alexion AstraZeneca Rare Disease, Kyowa Kirin, and Inozyme Pharma, research support from Alexion AstraZeneca Rare Disease, and Ultragenyx Pharmaceuticals.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosure"}},{"value":"This overview manuscript does not report original human or animal data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights"}}],"article-number":"46"}}