Concepedia
Statistics
Publications
163
Citations
10.4K
H-Index
56
Active since
1985
Affiliations
University of Amsterdam(Current)
Amsterdam UMC Location University of Amsterdam
Emma Kinderziekenhuis
Wilhelmina Children's Hospital
University Medical Center Utrecht
Bwee Tien Poll‐The is an author at University of Amsterdam specializing in life sciences, medicine, and neurology.
Publications per year
1985–2020
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen, Stephan Kemp, Björn M. van Geel et al. · Orphanet Journal of Rare Diseases · 2012 · 573 citations · Full text
Medicine, Endocrinology, Neurology +17
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 522 citations
Life Sciences, Genetics, Molecular Genetics +7
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam et al. · The American Journal of Human Genetics · 1998 · 297 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
Bwee Tien Poll‐The, Frank Roels, H. Ogier et al. · PubMed · 1988 · 262 citations
Life Sciences, Biochemistry, Endocrinology +17
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