|
Volumn 196, Issue 2, 2002, Pages 161-173
|
Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects;Maladie de Fabry (déficit en alpha-galactosidase A): physiopathologie, signes cliniques et aspects génétiques.
|
Author keywords
[No Author keywords available]
|
Indexed keywords
ALPHA GALACTOSIDASE;
CERAMIDE TRIHEXOSIDE;
GLOBOTRIAOSYLCERAMIDE;
AMINO ACID SUBSTITUTION;
CARDIOVASCULAR DISEASE;
CHRONIC KIDNEY FAILURE;
DISEASE COURSE;
ENZYMOLOGY;
EYE DISEASE;
FABRY DISEASE;
FEMALE;
GENETIC COUNSELING;
GENETICS;
GENOTYPE;
HETEROZYGOTE DETECTION;
HUMAN;
INFANT;
KIDNEY TRANSPLANTATION;
MALE;
METABOLISM;
MUTATION;
PATHOPHYSIOLOGY;
PREGNANCY;
PRENATAL DIAGNOSIS;
REVIEW;
X CHROMOSOME;
ALPHA-GALACTOSIDASE;
AMINO ACID SUBSTITUTION;
CARDIOVASCULAR DISEASES;
DISEASE PROGRESSION;
EYE DISEASES;
FABRY DISEASE;
FEMALE;
GENETIC COUNSELING;
GENOTYPE;
HETEROZYGOTE DETECTION;
HUMANS;
INFANT;
KIDNEY FAILURE, CHRONIC;
KIDNEY TRANSPLANTATION;
MALE;
MUTATION;
PREGNANCY;
PRENATAL DIAGNOSIS;
TRIHEXOSYLCERAMIDES;
X CHROMOSOME;
MLCS;
MLOWN;
|
EID: 0036369793
PISSN: 12950661
EISSN: None
Source Type: Journal
DOI: 10.1051/jbio/2002196020161 Document Type: Review |
Times cited : (25)
|
References (88)
|