[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].

Vabres, P

[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome]. [electronic resource] - Annales de dermatologie et de venereologie Oct 1998 - 715-6 p. digital

Publication Type: Case Reports; English Abstract; Journal Article

0151-9638


Acyl Carrier Protein--metabolism
Biopsy
Congenital Disorders of Glycosylation--diagnosis
Diagnosis, Differential
Glycosylation
Humans
Infant
Liver--pathology
Male
Phosphoglucomutase--metabolism
Phosphotransferases (Phosphomutases)--deficiency
Skin Diseases--diagnosis