Otto van Diggelen

Genotype‐phenotype correlation in adult‐onset acid maltase deficiency

John H. J. Wokke, Margreet G.E.M. Ausems, Marie‐José H. van den Boogaard et al. · Annals of Neurology · 1995 · 82 citations · Full text

Serum Creatine Kinase, Electrolyte Disorder, Adult Form +12

A Congenital Variant of Glycogenosis Type IV

Gerard van Noort, Wim Straks, Otto van Diggelen et al. · Fetal and Pediatric Pathology · 1993 · 42 citations

Down Syndrome, Developmental Anomaly, Developmental Biology +13

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

Willy Lissens, Linda De Meırleır, Sara Seneca et al. · Human Mutation · 1996 · 34 citations

Increased expression of lysosomal acid phosphatase in CLN3‐defective cells and mouse brain tissue

Sandra Pohl, Hannah M. Mitchison, Alfried Kohlschütter et al. · Journal of Neurochemistry · 2007 · 31 citations · Full text