Literature DB >> 21889374

Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

Hagit N Baris, Annick Raas-Rothschild, Ben-Zion Garty, Ruth Tor, Sarah Klontz, Nahid Tayebi, Ellen Sidransky, Ian J Cohen.   

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Year:  2011        PMID： 21889374      PMCID： PMC3350999          DOI： 10.1016/j.bcmd.2011.08.002

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  7 in total

1.  Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease.

Authors:  Makoto Migita; Hisamitsu Hamada; Juri Fujimura; Atsushi Watanabe; Takashi Shimada; Yoshitaka Fukunaga
Journal:  Eur J Pediatr       Date:  2003-04-23       Impact factor: 3.183

2.  Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

Authors:  B Cormand; L Vilageliu; S Balcells; R Gonzàlez-Duarte; A Chabás; D Grinberg
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

Review 3.  Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Authors:  D L Stone; N Tayebi; E Orvisky; B Stubblefield; V Madike; E Sidransky
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

4.  Gaucher disease: enzyme therapy in the acute neuronopathic variant.

Authors:  C A Prows; N Sanchez; C Daugherty; G A Grabowski
Journal:  Am J Med Genet       Date:  1997-07-11

Review 5.  Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Authors:  N Gupta; I M Oppenheim; E F Kauvar; N Tayebi; E Sidransky
Journal:  Blood Cells Mol Dis       Date:  2010-09-28       Impact factor: 3.039

Review 6.  Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Authors:  Kathleen S Hruska; Mary E LaMarca; C Ronald Scott; Ellen Sidransky
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

7.  Management of neuronopathic Gaucher disease: revised recommendations.

Authors:  A Vellodi; A Tylki-Szymanska; E H Davies; E Kolodny; B Bembi; T Collin-Histed; E Mengel; A Erikson; R Schiffmann
Journal:  J Inherit Metab Dis       Date:  2009-08-05       Impact factor: 4.982
  7 in total

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