Application of a comprehensive protocol for the identification of Gaucher disease in Brazil

American Journal of Medical Genetics

Volumn 136 A, Issue 1, 2005, Pages 58-62

  Michelin, Kristiane ^a,b   Wajner, Alessandro ^a,b   De Souza, Fernanda T S ^a,b   De Mello, Alexandre S ^a   Burin, Maira G ^a   Pereira, Maria Luiza S ^a,b   Pires, Ricardo F ^a   Giugliani, Roberto ^a,b   Coelho, Janice C ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

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

Author keywords

glucosidase; Chitotriosidase; Gaucher disease; Lysosomal storage disorders; Sphingolipidoses

Indexed keywords

BETA GLUCOSIDASE; CHITOTRIOSIDASE; GLUCOSYLCERAMIDASE; GLYCOSIDASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOCHEMISTRY; BLOOD SAMPLING; BRAZIL; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GAUCHER DISEASE; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LABORATORY DIAGNOSIS; LIPIDOSIS; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; NIEMANN PICK DISEASE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BETA-GLUCOSIDASE; BRAZIL; CHILD; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENOTYPE; GEOGRAPHY; HEXOSAMINIDASES; HUMANS; INFANT; LYSOSOMAL STORAGE DISEASES; MALE; MIDDLE AGED; MUTATION; NIEMANN-PICK DISEASES;

EID: 21644461684     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30787     Document Type: Article

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