Literature DB >> 6750651

Gaucher disease: a century of delineation and understanding.

R J Desnick.   

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Year:  1982        PMID： 6750651

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  5 in total

1.  Gaucher disease: resetting the clinical and scientific agenda.

Authors:  Pramod K Mistry; Neal J Weinreb; Roscoe O Brady; Gregory A Grabowski
Journal:  Am J Hematol       Date:  2009-04       Impact factor: 10.047

2.  The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.

Authors:  A M Wang; T Kanzaki; R J Desnick
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808

3.  Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.

Authors:  J E Bergmann; G A Grabowski
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

Review 4.  Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.

Authors:  Pramod K Mistry; Tamar Taddei; Stephan vom Dahl; Barry E Rosenbloom
Journal:  Crit Rev Oncog       Date:  2013

5.  In-depth phenotyping for clinical stratification of Gaucher disease.

Authors:  Simona D'Amore; Kathleen Page; Aimée Donald; Khadijeh Taiyari; Brian Tom; Patrick Deegan; Chong Y Tan; Kenneth Poole; Simon A Jones; Atul Mehta; Derralynn Hughes; Reena Sharma; Robin H Lachmann; Anupam Chakrapani; Tarekegn Geberhiwot; Saikat Santra; Siddarth Banka; Timothy M Cox
Journal:  Orphanet J Rare Dis       Date:  2021-10-14       Impact factor: 4.123
  5 in total

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