Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Author:
Funder
Horizon 2020
NIH
FNRS
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference36 articles.
1. Congenital disorders of glycosylation (CDG): Quo vadis?;Péanne;Eur. J. Med. Genet.,2018
2. Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function;Beamer;J. Inherit. Metab. Dis.,2015
3. Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis;Mio;Biochim. Biophys. Acta,2000
4. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome);Matthijs;Nat. Genet.,1997
5. The occurrence of a group transfer involving enzyme (phosphoglucomutase) and substrate;Najjar;Science,1954
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