Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
Author:
Funder
LaCATS
Hayward Trustees
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference24 articles.
1. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing;Timal;Hum. Mol. Genet.,2012
2. Muscle glycogenosis due to phosphoglucomutase 1 deficiency;Stojkovic;N. Engl. J. Med.,2009
3. Multiple phenotypes in phosphoglucomutase 1 deficiency;Tegtmeyer;N. Engl. J. Med.,2014
4. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene;Perez;J. Inherit. Metab. Dis.,2013
5. Congenital disorders of glycosylation: new defects and still counting;Scott;J Inherit Metab Dis.,2014
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