Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
2005; Elsevier BV; Volume: 147; Issue: 6 Linguagem: Inglês
10.1016/j.jpeds.2005.07.042
ISSN1097-6833
AutoresErik A. Eklund, Liangwu Sun, Vibeke Westphal, Jennifer L. Northrop, Hudson H. Freeze, Fernando Scaglia,
Tópico(s)Protein Tyrosine Phosphatases
ResumoWe present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum. We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.
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