Fabry disease: Treatment and diagnosis

IUBMB Life

Volumn 61, Issue 11, 2009, Pages 1043-1050

  Rozenfeld, Paula A ^a  

^a FACULTAD DE CIENCIAS EXACTAS   (Argentina)

Author keywords

galactosidase A; Diagnosis; Enzyme replacement therapy; Fabry disease; Globotriaosylceramide; Lysosomal storage disorders

Indexed keywords

BIOLOGICAL MARKER; ALPHA GALACTOSIDASE; CERAMIDE TRIHEXOSIDE; GLOBOTRIAOSYLCERAMIDE;

ACROPARESTHESIA; CEREBROVASCULAR DISEASE; CLINICAL FEATURE; CORRELATION ANALYSIS; DIARRHEA; ENZYME REPLACEMENT; EXERCISE TOLERANCE; FABRY DISEASE; FEVER; GASTROINTESTINAL PAIN; GENOTYPE; HEART DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEAT INTOLERANCE; HEMANGIOKERATOMA; HETEROZYGOSITY; HUMAN; INCIDENCE; KIDNEY DISEASE; NEWBORN SCREENING; PARESTHESIA; PATHOPHYSIOLOGY; PHENOTYPE; PRENATAL SCREENING; QUALITY OF LIFE; REVIEW; RISK ASSESSMENT; ARTICLE; FEMALE; GENETIC SCREENING; HETEROZYGOTE; MALE; METABOLISM; NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS;

ALPHA-GALACTOSIDASE; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PREGNANCY; PRENATAL DIAGNOSIS; QUALITY OF LIFE; TRIHEXOSYLCERAMIDES;

EID: 77449103631     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.257     Document Type: Review

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