S.K. Wadman

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

Hildegard Przyrembel, U. Wendel, Kathrin Becker et al. · Clinica Chimica Acta · 1976 · 230 citations

Glomerular Disease, Metabolic Syndrome, Renal Function +10

L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?

M. Durán, J.P. Kamerling, H. D. Bakker et al. · Journal of Inherited Metabolic Disease · 1980 · 220 citations

Purine Nucleoside Phosphorylase Deficiency Associated with Selective Cellular Immunodeficiency

J. W. Stoop, B.J.M. Zegers, G. F. M. Hendrickx et al. · New England Journal of Medicine · 1977 · 196 citations

Primary Immunodeficiency, Autoimmune Disease, Immunodeficiencies +12

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

J. P. G. M. Van Biervliet, L. Bruinvis, D. Ketting et al. · Pediatric Research · 1977 · 176 citations

Mitochondrial Myopathy, Kinesiology, Defective Respiratory Chain +7

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

Jean L. Johnson, William R. Waud, K.V. Rajagopalan et al. · Proceedings of the National Academy of Sciences · 1980 · 167 citations · Full text

Pathology, Molybdenum Cofactor, Plasma Molybdenum Concentration +18