Associated Papers
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
Derudder R et al.
Journal of Inherited Metabolic Disease, 2026
Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.
Akiyama T et al.
Journal of Inherited Metabolic Disease, 2025
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
On pathways and blind alleys-The importance of biomarkers in vitamin B6 -dependent epilepsies.
Plecko B
Journal of Inherited Metabolic Disease, 2023
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia.
Seefried L et al.
Bone, 2021
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Raimann A et al.
Hormone Research in Paediatrics, 2021
Clinical Significance of Hypophosphatasemia in Children.
Bayramli R et al.
Calcified Tissue International, 2020
Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.
Salles JP
The Clinical Biochemist. Reviews, 2020
Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.
Fujisawa Y et al.
Frontiers in Endocrinology, 2020
Update on the treatment of vitamin B6 dependent epilepsies.
Mastrangelo M et al.
Expert Review of Neurotherapeutics, 2019
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
Clarke CM et al.
American Journal of Medical Genetics. Part A, 2018
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Kishnani PS et al.
Molecular Genetics and Metabolism, 2017
Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges.
Whyte MP
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.
Whyte MP et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Hypophosphatasia: an overview of the disease and its treatment.
Bianchi ML
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2015
Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series.
Kosnik-Infinger L et al.
Neurosurgical Focus, 2015
Clinical Forms and Animal Models of Hypophosphatasia.
Salles JP
Sub-cellular Biochemistry, 2015
What Can We Learn About the Neural Functions of TNAP from Studies on Other Organs and Tissues?
Millán JL
Sub-cellular Biochemistry, 2015
Neurological Symptoms of Hypophosphatasia.
Taketani T
Sub-cellular Biochemistry, 2015
Clinical utility gene card for: hypophosphatasia - update 2013.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2014
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.
Belachew D et al.
Jimd Reports, 2013
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.
Leung EC et al.
Jimd Reports, 2013
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Whyte MP et al.
The New England Journal of Medicine, 2012
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
Balasubramaniam S et al.
Journal of Inherited Metabolic Disease, 2010
Physiological role of alkaline phosphatase explored in hypophosphatasia.
Whyte MP
Annals of the New York Academy of Sciences, 2010
Neurosurgical aspects of childhood hypophosphatasia.
Collmann H et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2009
Enzyme replacement therapy for murine hypophosphatasia.
Millán JL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008
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.
Baumgartner-Sigl S et al.
Bone, 2007