Reactome | Matthijs, G

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created	[InstanceEdit:3781876] Jassal, B, 2013-06-28
dbId	3781837
displayName	Matthijs, G
firstname	G
initial	G
publications	[LiteratureReference:3781897] Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A [LiteratureReference:4717363] Congenital disorder of glycosylation (CDG) type Ie. A new patient [LiteratureReference:3781828] Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [LiteratureReference:5615625] ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients [LiteratureReference:3781859] High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency) [LiteratureReference:4420017] SRD5A3-CDG: a patient with a novel mutation [LiteratureReference:4724286] Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic [LiteratureReference:4717390] Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie [LiteratureReference:4717386] MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
schemaClass	Person
surname	Matthijs

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