Literature DB >> 8433471

Clinical heterogeneity among patients with Gaucher's disease.

E Sidransky1, E I Ginns.   

Abstract

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Year:  1993        PMID： 8433471

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  6 in total

1.  Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.

Authors:  N Tayebi; S Cushner; E Sidransky
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

2.  Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

Authors:  M E Grace; P Ashton-Prolla; G M Pastores; A Soni; R J Desnick
Journal:  J Clin Invest       Date:  1999-03       Impact factor: 14.808

Review 3.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182

4.  Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling.

Authors:  E Sidransky; E I Ginns
Journal:  J Genet Couns       Date:  1994-03       Impact factor: 2.537

Review 5.  Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Authors:  Gregory A Grabowski; Generoso Andria; Antonio Baldellou; Pauline E Campbell; Joel Charrow; Ian J Cohen; Chris M Harris; Paige Kaplan; Eugen Mengel; Miguel Pocovi; Ashok Vellodi
Journal:  Eur J Pediatr       Date:  2003-12-16       Impact factor: 3.183

6.  Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

Authors:  D P Germain; J P Puech; C Caillaud; A Kahn; L Poenaru
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025
  6 in total

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