No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 711-715

  Kobayashi, Masahisa ^a   Ohashi, Toya ^a   Fukuda, Takahiro ^a   Yanagisawa, Tomoyoshi ^b   Inomata, Takayuki ^b   Nagaoka, Takashi ^c   Kitagawa, Teruo ^d   Eto, Yoshikatsu ^a   Ida, Hiroyuki ^a   Kusano, Eiji ^e  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Sagamihara Clinic   (Japan)

^d Tokyo Association of Health Service   (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

galactosidase A; E66Q mutation; Fabry disease; Globotriaosylceramide (GL3); Polymorphism; Pseudo deficiency

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE; GLUTAMIC ACID; GLUTAMINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; GENE; GENETIC POLYMORPHISM; GLA GENE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SYMPTOM;

ADULT; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; ENZYME ACTIVATION; EXONS; FABRY DISEASE; HUMANS; MALE; MUTATION; MYOCARDIUM; TRIHEXOSYLCERAMIDES;

EID: 84869861337     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.018     Document Type: Article

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