Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference19 articles.
1. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment;Whyte;Nat. Rev. Endocrinol.,2016
2. A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites;Greenberg;Genomics,1993
3. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients;Whyte;Bone,2015
4. Correlations of genotype and phenotype in hypophosphatasia;Zurutuza;Hum. Mol. Genet.,1999
5. Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review);Wenkert;J. Bone Miner. Res.,2011
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4. GSK3β rephosphorylation rescues ALPL deficiency-induced impairment of odontoblastic differentiation of DPSCs;Stem Cell Research & Therapy;2021-04-06
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