Inge E.T. van den Berg

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

Saskia W. C. van Mil, Wendy L. van der Woerd, Gerda van der Brugge et al. · Gastroenterology · 2004 · 343 citations

Medicine, Genetics, Molecular Genetics +10

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion

Peter T. Clayton, Simon Eaton, A Aynsley‐Green et al. · Journal of Clinical Investigation · 2001 · 253 citations

Life Sciences, Biochemistry, Endocrinology +15

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion

Peter T. Clayton, Simon Eaton, A Aynsley‐Green et al. · Journal of Clinical Investigation · 2001 · 252 citations · Full text

Life Sciences, Biochemistry, Endocrinology +15

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Tom J. de Koning, L. Dorland, O. P. van Diggelen et al. · Biochemical and Biophysical Research Communications · 1998 · 119 citations

Life Sciences, Biochemistry, Molecular Biology +16

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Leo W. J. Klomp, Tom J. de Koning, Helga E.M. Malingré et al. · The American Journal of Human Genetics · 2000 · 111 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15