Bwee Tien Poll‐The

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 · 555 citations · Full text

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 · 520 citations

Cause Hyperimmunoglobulinaemia D, Periodic Fever Syndrome, Autoimmune Disease +11

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 · 406 citations · Full text

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 · 294 citations · Full text

Mendelian Disorder, Smith-lemli-opitz Syndrome Is, Genetic Disorder +8

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 · 260 citations