Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?

Bittencourt, Marcelo Imbroinise

Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease? / Descrição de Nova Variante do Gene GLA em Paciente com Cardiomiopatia Hipertrófica. É Doença de Fabry?

Bittencourt, Marcelo Imbroinise.

Bittencourt, Marcelo Imbroinise; Universidade do Estado do Rio de Janeiro. Hospital Universitário Pedro Ernesto. Rio de Janeiro. BR

Arq. bras. cardiol ; 113(1): 85-86, July 2019.

Article in English | LILACS | ID: biblio-1011233

Subject(s)

Humans; Cardiomyopathy, Hypertrophic; Fabry Disease; alpha-Galactosidase/genetics; Mutation

Alfa-Galactosidase/deficiência; Alpha-Galactosidase/deficiency; Cardiomiopatia Hipertrófica; Cardiomyopathy, Hypertrophic; Doença de Fabry/genética; Doença de Fabry/metabolismo; Doenças Crônicas Múltiplas; Fabry Disease/genetics; Fabry Disease/metabolismo; Multiple Chronic Conditions

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Full text: Available Index: LILACS (Americas) Main subject: Cardiomyopathy, Hypertrophic / Fabry Disease Limits: Humans Language: English Journal: Arq. bras. cardiol Journal subject: Cardiology Year: 2019 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade do Estado do Rio de Janeiro/BR

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