Short, E M

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency. [electronic resource] - The New England journal of medicine Jan 1973 - 7-12 p. digital

Publication Type: Journal Article

0028-4793

10.1056/NEJM197301042880102 doi


Adult
Amino Acid Metabolism, Inborn Errors--diagnosis
Ammonia--blood
Biopsy, Needle
Diet Therapy
Dietary Proteins
Female
Genes, Dominant
Heterozygote
Humans
Infant, Newborn
Infant, Newborn, Diseases--diagnosis
Liver--enzymology
Male
Mutation
Ornithine Carbamoyltransferase--metabolism
Pedigree
Sex Chromosomes
Sex Factors