Hereditary renal hypouricemia in children

ON THE COLORIMETRIC DETERMINATION OF CREATININE BY THE JAFFE REACTION

Roy W. Bonsnes, Hertha H. Taussky · Journal of Biological Chemistry · 1945 · 2K citations · Full text

Natural Sciences, Biochemistry, Chemistry +3

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

William S. Sly, David Hewett‐Emmett, Michael P. Whyte et al. · Proceedings of the National Academy of Sciences · 1983 · 622 citations · Full text

Life Sciences, Biochemistry, Genetics +17

HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

D N Baron, C. E. Dent, Heather A. Harris et al. · The Lancet · 1956 · 414 citations

Medicine, Dermatology, Neurology +14

The renal mechanism for urate homeostasis in normal man

Thomas H. Steele, Richard E. Rieselbach · The American Journal of Medicine · 1967 · 170 citations

Medicine, Nephrology, Physiology +13

The adult Fanconi syndrome

Lila A. Wallis, Ralph L. Engle · The American Journal of Medicine · 1957 · 145 citations

Life Sciences, Endocrinology, Human Genetics +1