TY  - GEN
AU  - Fujimoto,A
AU  - Tayebi,N
AU  - Sidransky,E
TI  - Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease
SN  - 0148-7299
PY  - 1996///0419
KW  - Amniocentesis
KW  - Ceramides
KW  - metabolism
KW  - Diagnosis, Differential
KW  - Epidermis
KW  - Fatal Outcome
KW  - Female
KW  - Fetal Diseases
KW  - diagnosis
KW  - Gaucher Disease
KW  - classification
KW  - Glucosylceramidase
KW  - analysis
KW  - Humans
KW  - Ichthyosis
KW  - Ichthyosis, X-Linked
KW  - Infant, Newborn
KW  - Male
KW  - Prognosis
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.1320590315
ER  -