M. Boer

Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk

Johanna M. P. van den Hout, Joep H. J. Kamphoven, Léon P. F. Winkel et al. · PEDIATRICS · 2004 · 348 citations

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

α‐<i>N</i>‐acetylgalactosaminidase deficiency, a new lysosomal storage disorder

O. P. van Diggelen, Detlev Schindler, Rob Willemsen et al. · Journal of Inherited Metabolic Disease · 1988 · 50 citations

β‐Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

Wim J. Kleijer, Peisong Hu, R. Thoomes et al. · Journal of Inherited Metabolic Disease · 1990 · 48 citations · Full text

Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit (PHKB)

Inge E.T. van den Berg, Ellen A.C.M. van Beurden, Johannis B.C. de Klerk et al. · The American Journal of Human Genetics · 1997 · 23 citations · Full text

Hepatology, Genetic Disorder, Genetics +8