{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:06:59Z","timestamp":1789646819971,"version":"4.0.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bone"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1016\/j.bone.2007.01.020","type":"journal-article","created":{"date-parts":[[2007,2,27]],"date-time":"2007-02-27T16:00:36Z","timestamp":1172592036000},"page":"1655-1661","source":"Crossref","is-referenced-by-count":150,"title":["Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene"],"prefix":"10.1016","volume":"40","author":[{"given":"Sara","family":"Baumgartner-Sigl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edda","family":"Haberlandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Scholl-B\u00fcrgi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consolato","family":"Sergi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen L.","family":"Ericson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Whyte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2007.01.020_bib1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/S1570-9639(03)00045-1","article-title":"Pyridoxine-dependent seizures: a clinical and biochemical conundrum","volume":"1647","author":"Baxter","year":"2003","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bone.2007.01.020_bib2","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1097\/01.wco.0000218230.81301.12","article-title":"Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment","volume":"19","author":"Gospe","year":"2006","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.bone.2007.01.020_bib3","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nm1366","article-title":"Mutations in antiquitin in individuals with pyridoxine-dependent seizures","volume":"12","author":"Mills","year":"2006","journal-title":"Nat. Med."},{"key":"10.1016\/j.bone.2007.01.020_bib4","doi-asserted-by":"crossref","first-page":"15107","DOI":"10.1074\/jbc.M010860200","article-title":"Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II","volume":"276","author":"Farrant","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bone.2007.01.020_bib5","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/ddi120","article-title":"Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5\u2032-phosphate oxidase","volume":"14","author":"Mills","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2007.01.020_bib6","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1136\/adc.2003.045963","article-title":"Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy","volume":"90","author":"Wang","year":"2005","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.bone.2007.01.020_bib7","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/adc.81.5.431","article-title":"Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK","volume":"81","author":"Baxter","year":"1999","journal-title":"Arch. Dis. Child"},{"key":"10.1016\/j.bone.2007.01.020_bib8","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"5313","article-title":"Hypophosphatasia","author":"Whyte","year":"2001"},{"key":"10.1016\/j.bone.2007.01.020_bib9","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/0002-9343(57)90124-9","article-title":"Hypophosphatasia","volume":"22","author":"Fraser","year":"1957","journal-title":"Am. J. Med."},{"key":"10.1016\/j.bone.2007.01.020_bib10","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1172\/JCI113440","article-title":"Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5\u2032-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase","volume":"81","author":"Whyte","year":"1988","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bone.2007.01.020_bib11","series-title":"Principles of Bone Biology","first-page":"1229","article-title":"Hypophosphatasia: nature's window on alkaline phosphatase function in man","author":"Whyte","year":"2002"},{"key":"10.1016\/j.bone.2007.01.020_bib12","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1359\/jbmr.2003.18.4.624","article-title":"Marrow cell transplantation for infantile hypophosphatasia","volume":"18","author":"Whyte","year":"2003","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2007.01.020_bib13","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1111\/j.1651-2227.2000.tb00374.x","article-title":"Infantile hypophosphatasia: disappointing results of treatment","volume":"89","author":"Deeb","year":"2000","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.bone.2007.01.020_bib14","first-page":"835","article-title":"Neonatal discovery of hypophosphatasia. Bone improvement, fatal convulsant encephalopathy","volume":"14","author":"Bethenod","year":"1967","journal-title":"Ann. Pediatr. (Paris)"},{"key":"10.1016\/j.bone.2007.01.020_bib15","first-page":"355","article-title":"Effects of pyridoxine on neonatal hypophosphatasia","volume":"9","author":"Sia","year":"1975","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bone.2007.01.020_bib16","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1177\/088307380201700314","article-title":"Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn","volume":"17","author":"Nunes","year":"2002","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.bone.2007.01.020_bib17","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1023\/A:1015121414782","article-title":"Glu274Lys\/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions","volume":"25","author":"Litmanovitz","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bone.2007.01.020_bib18","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.pediatrneurol.2003.08.003","article-title":"A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia","volume":"30","author":"Yamamoto","year":"2004","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.bone.2007.01.020_bib19","first-page":"319","article-title":"Neonatal hypophosphatasia and seizures. A case report","volume":"57","author":"Smilari","year":"2005","journal-title":"Minerva Pediatr."},{"key":"10.1016\/j.bone.2007.01.020_bib20","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1001\/archpedi.1948.02030020840003","article-title":"Hypophosphatasia: a new developmental anomaly","volume":"75","author":"Rathbun","year":"1948","journal-title":"Am. J. Dis. Child"},{"key":"10.1016\/j.bone.2007.01.020_bib21","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1210\/jc.2006-1706","article-title":"Sex- and age-specific reference curves for serum markers of bone turnover in healthy children from 2\u00a0months to 18\u00a0years","volume":"92","author":"Rauchenzauner","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2007.01.020_bib22","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.jchromb.2005.07.017","article-title":"Use of chlorite to improve HPLC detection of pyridoxal 5\u2032-phosphate","volume":"823","author":"Ericson","year":"2005","journal-title":"J. Chromatogr., B Anal, Technol, Biomed, Life Sci."},{"key":"10.1016\/j.bone.2007.01.020_bib23","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1006\/mgme.2001.3283","article-title":"Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia","volume":"75","author":"Mumm","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bone.2007.01.020_bib24","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","article-title":"Nomenclature for the description of human sequence variations","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bone.2007.01.020_bib25","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/S0140-6736(84)90906-1","article-title":"Pyridoxal-5\u2032-phosphate concentration as marker for vitamin-B6-dependent seizures in the newborn","volume":"2","author":"Shin","year":"1984","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2007.01.020_bib26","first-page":"S528","article-title":"Infantile hypophosphatasia with fatal status epilepticus","author":"Posen","year":"1997","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2007.01.020_bib27","series-title":"Endocrine control of bone and calcium Metabolism","first-page":"93","article-title":"The relationship between phosphoethanolamine level in serum and intractable seizure on hypophosphatasia in infantile form","author":"Takahashi","year":"1984"},{"key":"10.1016\/j.bone.2007.01.020_bib28","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ng0995-45","article-title":"Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6","volume":"11","author":"Waymire","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2007.01.020_bib29","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1471-4159.1981.tb02401.x","article-title":"Anticonvulsant activity of muscimol and gamma-aminobutyric acid against pyridoxal phosphate-induced epileptic seizures","volume":"36","author":"Kouyoumdjian","year":"1981","journal-title":"J. Neurochem."},{"key":"10.1016\/j.bone.2007.01.020_bib30","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/S0920-1211(97)00088-0","article-title":"Proconvulsant effects induced by pyridoxine in young rats","volume":"29","author":"Veresova","year":"1998","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.bone.2007.01.020_bib31","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/jat.1007","article-title":"Pyridoxine (vitamin B6) neurotoxicity: enhancement by protein-deficient diet","volume":"24","author":"Levine","year":"2004","journal-title":"J. Appl. Toxicol."},{"key":"10.1016\/j.bone.2007.01.020_bib32","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/humu.20433","article-title":"Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene","volume":"28","author":"Plecko","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bone.2007.01.020_bib33","first-page":"S384","article-title":"Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations","volume":"17","author":"Wenkert","year":"2002","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2007.01.020_bib34","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1359\/jbmr.1999.14.12.2015","article-title":"Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia","volume":"14","author":"Fedde","year":"1999","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2007.01.020_bib35","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1093\/hmg\/8.6.1039","article-title":"Correlations of genotype and phenotype in hypophosphatasia","volume":"8","author":"Zurutuza","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2007.01.020_bib36","unstructured":"Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, Mumm S, Whyte MP. Infantile hypophosphatasia: trial of transplantation therapy using bone fragments and cultured osteoblasts. (Submitted for publication)."},{"key":"10.1016\/j.bone.2007.01.020_bib37","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/0003-2697(83)90555-9","article-title":"A versatile cation-exchange procedure of measuring the seven major forms of vitamin B6 in biological samples","volume":"129","author":"Coburn","year":"1983","journal-title":"Anal. Biochem."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632820700052X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632820700052X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T21:21:33Z","timestamp":1546982493000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S875632820700052X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S875632820700052X"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2007.01.020","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}