Literature DB >> 12970647

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Ozlem Goker-Alpan1, Raphael Schiffmann, Joseph K Park, Barbara K Stubblefield, Nahid Tayebi, Ellen Sidransky.   

Abstract

Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.

Entities:  

Mesh：

Year:  2003        PMID： 12970647     DOI： 10.1067/S0022-3476(03)00302-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  46 in total

Review 1.  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

2.  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

Review 3.  Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.

Authors:  Hagit N Baris; Ian J Cohen; Pramod K Mistry
Journal:  Pediatr Endocrinol Rev       Date:  2014-09

4.  Recent advances in the diagnosis and management of Gaucher disease.

Authors:  Sam E Gary; Emory Ryan; Alta M Steward; Ellen Sidransky
Journal:  Expert Rev Endocrinol Metab       Date:  2018-03-12

Review 5.  Modeling neuronopathic storage diseases with patient-derived culture systems.

Authors:  Friederike Zunke; Joseph R Mazzulli
Journal:  Neurobiol Dis       Date:  2019-02-19       Impact factor: 5.996

6.  In silico and functional studies of the regulation of the glucocerebrosidase gene.

Authors:  Yotam N Blech-Hermoni; Shira G Ziegler; Kathleen S Hruska; Barbara K Stubblefield; Mary E Lamarca; Matthew E Portnoy; Eric D Green; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2009-11-04       Impact factor: 4.797

7.  Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.

Authors:  You-Hai Xu; Rachel Reboulet; Brian Quinn; Joerg Huelsken; David Witte; Gregory A Grabowski
Journal:  Mol Genet Metab       Date:  2008-03-17       Impact factor: 4.797

Review 8.  The link between the GBA gene and parkinsonism.

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

9.  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

10.  Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.

Authors:  Deborah Elstein; Ari Zimran
Journal:  Biologics       Date:  2009-09-15
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.