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 · 419 citations

Life Sciences, Molecular Biology, Neuroscience +14

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 · 387 citations

Life Sciences, Genetics, Neurology +14

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 · 351 citations

Medicine, Pathology, Pediatrics +13

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 · 269 citations · Full text

Medicine, Molecular Genetics, Neuroscience +11

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