R. B. H. Schutgens

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst et al. · Nature Genetics · 2001 · 412 citations

Translational Biology, Disease Mechanism, White Matter +6

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst et al. · Annals of Neurology · 2001 · 380 citations

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)

H. S. A. Heymans, R. B. H. Schutgens, Raymond K. Tan et al. · Nature · 1983 · 348 citations

Severe Plasmalogen Deficiency, Physiology, Hematology +6

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen et al. · The American Journal of Human Genetics · 2001 · 264 citations · Full text

Neurobiology Of Disease, Neurological Disorder, Medicine +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 · 260 citations