Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series
Author:
Publisher
Elsevier BV
Subject
Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism
Reference18 articles.
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2. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia;Weiss;Proc. Natl. Acad. Sci. U. S. A.,1988
3. Hypophosphatasia: an overview for 2017;Whyte;Bone,2017
4. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5’-phosphate availability;Balasubramaniam;J. Inherit. Metab. Dis.,2010
5. Hypophosphatasia;Mornet;Orphanet J Rare Dis.,2007
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review;Bone;2024-11
2. Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up;Hormone Research in Paediatrics;2024-08-05
3. Enzyme replacement therapy for hypophosphatasia—The current paradigm;Clinical Endocrinology;2024-07-14
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