Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.
case_report · Level V
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Abstract
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.
Medical subject headings
- Central Nervous System Diseases
- Congenital Disorders of Glycosylation
- Liver Diseases
- Protein-Losing Enteropathies