Literature DB >> 10527671

Type 2 gaucher disease: an expanding phenotype.

N Tayebi1, D L Stone, E Sidransky.   

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Year:  1999        PMID： 10527671     DOI： 10.1006/mgme.1999.2918

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  11 in total

Review 1.  Variable clinical presentation in lysosomal storage disorders.

Authors:  M Beck
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

Review 2.  The clinical management of Type 2 Gaucher disease.

Authors:  Karin Weiss; Ashley Gonzalez; Grisel Lopez; Leah Pedoeim; Catherine Groden; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2014-11-14       Impact factor: 4.797

3.  Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Authors:  Aegean Chan; Walter M Holleran; Tajh Ferguson; Debra Crumrine; Ozlem Goker-Alpan; Raphael Schiffmann; Nahid Tayebi; Edward I Ginns; Peter M Elias; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2011-09-16       Impact factor: 4.797

4.  Premature Identical Twin Neonates With Sleep Apnea.

Authors:  Anirudh Ramesh; Johanna Diaz; Lawrence Nogee; Jessica Duis; Dae Song Jang; Cathleen Lawson; Gustavo Maegawa
Journal:  Clin Pediatr (Phila)       Date:  2017-03-20       Impact factor: 1.168

5.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

Review 6.  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

7.  Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III.

Authors:  Ahmed Abdel Khalek Abdel Razek; Nahed Abd El-Gaber; Ahmed Abdalla; Abeer Fathy; Ahmed Azab; Ashraf Abdel Rahman
Journal:  Neuroradiology       Date:  2009-07-15       Impact factor: 2.804

Review 8.  Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Authors:  Shraga Aviner; Ben-Zion Garty; Avinoam Rachmel; Hagit N Baris; Ellen Sidransky; Avinoam Shuffer; Joseph Attias; Yisaac Yaniv; Ian J Cohen
Journal:  Blood Cells Mol Dis       Date:  2009-09-05       Impact factor: 3.039

9.  The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

Authors:  Tamanna Roshan Lal; Gurpreet K Seehra; Alta M Steward; Chelsie N Poffenberger; Emory Ryan; Nahid Tayebi; Grisel Lopez; Ellen Sidransky
Journal:  Neurology       Date:  2020-08-06       Impact factor: 9.910

10.  Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Authors:  Hanqian Zhang; Maja Ericsson; Simone Weström; Anders Vahlquist; Marie Virtanen; Hans Törmä
Journal:  Exp Dermatol       Date:  2018-12-21       Impact factor: 3.960
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