Fabry disease: A new approach for the screening of females in high-risk groups

Clinical Biochemistry

Volumn 47, Issue 7-8, 2014, Pages 657-662

  Pasqualim, Gabriela ^a,b   Simon, Laura ^a,b   Sperb Ludwig, Fernanda ^b   Burin, Maira Graef ^b   Michelin Tirelli, Kristiane ^b   Giugliani, Roberto ^a,b,c   Matte, Ursula ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c INAGEMP   (Brazil)

Author keywords

Fabry disease; Molecular diagnosis; Screening; GAL activity

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; LEUKOCYTE; MAJOR CLINICAL STUDY; PLASMA; PRIORITY JOURNAL; ENZYMOLOGY; GENETICS; HETEROZYGOTE DETECTION; METABOLISM; MUTATION;

ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; LEUKOCYTES; MUTATION; PLASMA;

EID: 84900314408     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2014.02.014     Document Type: Article

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