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Stephan Kemp
Researcher at University of Amsterdam
Publications - 109
Citations - 8485
Stephan Kemp is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Adrenoleukodystrophy & Peroxisome. The author has an hindex of 38, co-authored 101 publications receiving 7418 citations. Previous affiliations of Stephan Kemp include Kennedy Krieger Institute & Johns Hopkins University.
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Journal ArticleDOI
Histone deacetylases (HDACs): characterization of the classical HDAC family
Annemieke J.M. de Ruijter,Albert H. van Gennip,Huib N. Caron,Stephan Kemp,André B.P. van Kuilenburg +4 more
TL;DR: In this paper, a comprehensive overview of the structure, function and tissue distribution of members of the classical histone deacetylase (HDAC) family, in order to gain insight into the regulation of gene expression through HDAC activity is presented.
Journal ArticleDOI
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen,Stephan Kemp,Marianne de Visser,Björn M. van Geel,Ronald J.A. Wanders,Patrick Aubourg,Bwee Tien Poll-The +6 more
TL;DR: This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.
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ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Stephan Kemp,Aurora Pujol,Hans R. Waterham,Björn M. van Geel,Corinne D. Boehm,Gerald V. Raymond,Garry R. Cutting,Ronald J.A. Wanders,Hugo W. Moser +8 more
TL;DR: A detailed analysis of all 406 X‐ALD mutations currently included in the database is reported, and 47 novel mutations are presented, including 47 novel extensions of the ABCD1 gene.
Journal ArticleDOI
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
TL;DR: Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease.
Journal ArticleDOI
Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
Stephan Kemp,He-Ming Wei,Jyh Feng Lu,Lelita T. Braiterman,Martina C. Mcguinness,Ann B. Moser,Paul A. Watkins,Kirby D. Smith +7 more
TL;DR: In vivo efficacy of dietary 4-phenylbutyrate treatment is demonstrated through its production of a substantial reduction of very-long-chain fatty acid levels in the brain and adrenal glands of X-ALD mice.