Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest-of-the-world

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 81-86

  Sobreira, Elisa ^a   Pires, Ricardo F ^b   Cizmarik, Marta ^c   Grabowski, Gregory A ^d  

^a Santa de Sao Paulo Medical School   (Brazil)

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

^c GENZYME CORPORATION   (United States)

^d CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

Author keywords

Bone disease; Brazil; Children; Demographics; Genotype; Lysosomal storage disorder; Type 1 Gaucher disease

Indexed keywords

GLUCOSYLCERAMIDE;

ADOLESCENT; ADULT; AGED; ANEMIA; ARTICLE; BONE DISEASE; BONE LESION; BONE PAIN; BRAZIL; CHILD; DEMOGRAPHY; DISEASE SEVERITY; FEMALE; GAUCHER DISEASE; GENETIC HETEROGENEITY; HEPATOSPLENOMEGALY; HUMAN; INFANT; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; BRAZIL; CHILD; COHORT STUDIES; FEMALE; GAUCHER DISEASE; GENETIC HETEROGENEITY; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; JEWS; MALE; PHENOTYPE;

EID: 33845232064     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.08.009     Document Type: Article

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