Dol-P-Mannosyltransferase Deficiency
Dol-P-mannosyltransferase deficiency is a very rare inherited congenital disorder of glycosylation (CDG). It happens when the body cannot correctly make or use dolichol-phosphate-mannose, a small but...
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Dol-P-mannosyltransferase deficiency is a very rare inherited congenital disorder of glycosylation (CDG). It happens when the body cannot correctly make or use dolichol-phosphate-mannose, a small but...
Congenital disorder of glycosylation caused by mutation in DPM1 is a very rare inherited metabolic disease. It is usually called DPM1-CDG. In this condition, the body...
Carbohydrate-deficient glycoprotein syndrome type Ie is an old name for DPM1-congenital disorder of glycosylation, often written as DPM1-CDG. It is a very rare inherited metabolic disease....
Congenital disorder of glycosylation type 1e, also called DPM1-CDG or CDG-Ie, is a very rare inherited metabolic disease. It happens when the DPM1 gene does not...
Carbohydrate deficiency glycoprotein syndrome is the older name for part of a larger group now called congenital disorders of glycosylation, or CDG. In simple words, the...
Congenital disorder of glycosylation, usually called CDG, is a large group of rare inherited metabolic diseases. In these diseases, the body cannot correctly attach sugar chains...
NGLY1-related congenital disorder of deglycosylation is a very rare inherited disease that affects many parts of the body, especially the brain, nerves, eyes, liver, and development....
Alacrimia-choreoathetosis-liver dysfunction syndrome is a very rare inherited disease. It is now usually called NGLY1 deficiency or NGLY1-related congenital disorder of deglycosylation. In this condition, the...
Congenital disorder of deglycosylation 1 is a very rare inherited disease. Doctors also call it NGLY1 deficiency or NGLY1-congenital disorder of deglycosylation. It happens when both...
Congenital diarrhea caused by mutation in DGAT1 is a very rare inherited disease. It usually starts in the newborn period or in early infancy. The baby...
Congenital chronic diarrhea with protein-losing enteropathy is not usually one single disease name. It is a clinical description for a baby or young child who has...
Congenital chronic diarrhea with exudative enteropathy is a rare inherited early-life intestinal disease in which the gut does not handle nutrients, fluids, and proteins normally, so...