An adult with a non-neuronopathic form of Niemann_Pick C disease-Reference-Cited by-同舟云学术

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An adult with a non-neuronopathic form of Niemann_Pick C disease

Published:1999-02 Issue:1 Volume:22 Page:84-86
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fensom A. H.¹,Grant A. R.¹,Steinberg S. J.¹,Ward C. P.¹,Lake B. D.²,Logan E. C.³,Hulman G.⁴

Affiliation:

1. ; Division of Medical and Molecular Genetics; UMDS, Guy's Hospital; London UK

2. ; Department of Histopathology; Great Ormond Street Hospital for Children; London UK

3. Department of Haematology; King's Mill Centre for Health Care, Sutton-in-Ashfield; Notts UK

4. Department of Histopathology; King's Mill Centre for Health Care, Sutton-in-Ashfield; Notts UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005463718823/fullpdf

Reference9 articles.

1. Niemann-Pick C1 disease vngene: homology to mediators of cholesterol homeostasis;Carstea;Science,1997

2. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group;Steinberg;J Med Genet,1994

3. Recent advances in elucidating Niemann-Pick C disease;Vanier;Brain Pathol,1998

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets;Genetics in Medicine;2016-01

2. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update;Molecular Genetics and Metabolism;2012-07

3. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients;Human Mutation;2011-06-07

4. Niemann-Pick disease type C;Orphanet Journal of Rare Diseases;2010-06-03

5. Diagnostic clinique des formes de l’adulte de la maladie de Niemann-Pick type C;Archives de Pédiatrie;2010-06

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