Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare

Blood Cells, Molecules, and Diseases

Volumn 43, Issue 3, 2009, Pages 294-297

  Aviner, Shraga ^a   Garty, Ben Zion ^b,c   Rachmel, Avinoam ^b,c   Baris, Hagit N ^c,d   Sidransky, Ellen ^e   Shuffer, Avinoam ^b,c   Attias, Joseph ^b,c   Yaniv, Yisaac ^b,c   Cohen, Ian J ^b,c  

^a BARZILAI MEDICAL CENTER   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d RABIN MEDICAL CENTER   (Israel)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Ashkenazi Jews; Glucocerebrosidase; Lysosomal storage disorder; Type 2 Gaucher disease

Indexed keywords

GLUCOSYLCERAMIDASE; IMIGLUCERASE; THIAMINE;

ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE CLASSIFICATION; FEMALE; FETUS; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; ISRAEL; JEW; MALE; MUSCLE HYPERTONIA; NEWBORN; PHENOTYPE; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; THIAMINE DEFICIENCY;

ENZYME REPLACEMENT THERAPY; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; ISRAEL; JEWS; MALE; MUTATION;

EID: 71749096143     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.08.004     Document Type: Article

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