Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation
Author:
Funder
National Natural Science Foundation of China
Basic and Applied Basic Research Foundation of Guangdong Province
Publisher
Elsevier BV
Reference18 articles.
1. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies;MARQUARDT;Eur J Pediatr,2003
2. Recognizable phenotypes in CDG;Ferreira;J. Inherit. Metab. Dis.,2018
3. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement;Jaeken;Acta Paediatr. Scand. Suppl.,1991
4. Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage;Stefanits;J. Neurosurg. Pediatr.,2014
5. Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations;Erlandson;Hum. Genet.,2001
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