F. A. Beemer

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

M.G.E.M. Ausems, J. R. Verbiest, MMP Hermans et al. · European Journal of Human Genetics · 1999 · 302 citations · Full text

Genetic Testing, Mendelian Disorder, Inherited Metabolic Disease +9

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

T. de Koning, LWJ Klomp, ACC van Oppen et al. · The Lancet · 2004 · 132 citations

Fetal Medicine, Pediatrics, Maternal Health +7

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

Jaak Jaeken, S. K. Wadman, M. Durán et al. · European Journal of Pediatrics · 1988 · 125 citations

Biosynthesis, Biochemistry, Genetic Disorder +7

Pediatric Generalized Joint Hypermobility With and Without Musculoskeletal Complaints: A Localized or Systemic Disorder?

Raoul Engelbert, Ruud A. Bank, Ralph J. B. Sakkers et al. · PEDIATRICS · 2003 · 109 citations

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

Margreet G.E.M. Ausems, K. ten Berg, M.A. Kroos et al. · Public Health Genomics · 1999 · 73 citations