Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

The Metabolic Basis of Inherited Diseases

R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations

Metabolic Disorder, Genetics, Medical Library +21

Refractory Megaloblastic Anemia Associated with Excretion of Orotic Acid

Charles M. Huguley, James A. Bain, Shirley L. Rivers et al. · Blood · 1959 · 154 citations · Full text

HEREDITARY OROTIC ACIDURIA

G. B. SOUTTER, Jung-Eun Yu, A. Lovric et al. · Journal of Paediatrics and Child Health · 1970 · 88 citations

Conditions affecting the colorimetry of orotic acid and orotidine in urine.

M. L. Harris, V. G. Oberholzer · Clinical Chemistry · 1980 · 59 citations