Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.

Fujimoto, A

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. [electronic resource] - American journal of medical genetics Nov 1995 - 356-8 p. digital

Publication Type: Case Reports; Journal Article

0148-7299

10.1002/ajmg.1320590315 doi


Amniocentesis
Ceramides--metabolism
Diagnosis, Differential
Epidermis--metabolism
Fatal Outcome
Female
Fetal Diseases--diagnosis
Gaucher Disease--classification
Glucosylceramidase--analysis
Humans
Ichthyosis--diagnosis
Ichthyosis, X-Linked--diagnosis
Infant, Newborn
Male
Prognosis