Carrier detection in ornithine transcarbamylase deficiency

An enzymatic determination of ammonia in biological fluids.

A. M. Mondzac, G. Ehrlich, J. Edwin Seegmiller · PubMed · 1965 · 161 citations

Biological Fluids, Engineering, Biochemistry +4

Evidence for X-Linked Dominant Inheritance of Ornithine Transcarbamylase Deficiency

Elizabeth M. Short, Harold O. Conn, Philip J. Snodgrass et al. · New England Journal of Medicine · 1973 · 129 citations

Nutrition, Mendelian Disorder, Allergy +13

[Ornithine transcarbamylase deficiency].

Abigail Hata · PubMed · 1988 · 125 citations

Genetic Disorder, Pathology, Metabolism +3

Ornithine Transcarbamylase Deficiency

New England Journal of Medicine · 1973 · 116 citations

RECONSTITUTION OF B AND T LYMPHOCYTE FUNCTION IN SEVERE COMBINED IMMUNODEFICIENCY DISEASE AFTER TRANSPLANTATION WITH THYMIC EPITHELIUM

Robert Hong · The Lancet · 1976 · 111 citations

Primary Immunodeficiency, Transplantation, Autoimmune Disease +9