High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency
Author:
Funder
Japan Society for the Promotion of Science
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference32 articles.
1. Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling;Kinoshita;J Lipid Res,2016
2. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders;Bellai‐Dussault;Clin Genet,2019
3. Treatment of infantile spasms with high-dosage vitamin B6;Pietz;Epilepsia,1993
4. Disorders affecting vitamin B6 metabolism;Wilson;J Inherit Metab Dis,2019
5. Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis;Cruz;J Neurochem,2017
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