Literature summary for 2.4.1.258 extracted from

Riess, S.; Reddihough, D.S.; Howell, K.B.; Dagia, C.; Jaeken, J.; Matthijs, G.; Yaplito-Lee, J.
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings (2013), Mol. Genet. Metab., 110, 170-175.

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Application

Application	Comment	Organism
medicine	two Vietnamese siblings with confirmed ALG3-Congenital disorders of glycosylation, 15 and 21 years old, show clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. Both patients show mutations c.206T > C (p.169 T) and c.626T > C (p.M209T)	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)