Risk of serious illness in heterozygotes for ornithine transcarbamylase deficency

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

HYPERAMMONÆMIA

1962 • 328 citations

Treatment of Inborn Errors of Urea Synthesis

1982 • 266 citations

Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis

1984 • 230 citations

The urea cycle

1976 • 150 citations

Vitamin D-resistant rickets

1964 • 150 citations

Cerebral Dysfunction in Asymptomatic Carriers of Ornithine Transcarbamylase Deficiency

1980 • 128 citations

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

1985 • 127 citations

Physician management of sexually abused children and adolescents

1984 • 123 citations

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

1976 • 117 citations

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

1976 • 109 citations

Identification of female carriers of adrenoleukodystrophy

1983 • 100 citations

Ornithine carbamoyl transferase deficiency: A neuropathological study

1984 • 63 citations

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

1977 • 51 citations

Urea Cycle Diseases

1982 • 49 citations

Ultrastructural pathology in congenital defects of the urea cycle: Ornithine transcarbamylase and carbamylphosphate synthetase deficiency

1981 • 28 citations

[Fabry's disease].

1986 • 15 citations

Orotic Acid in Urine and Hyperammonemia

1982 • 12 citations

803 IDENTIFICATION OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD)

1985 • 9 citations

The implications of hyperammonemia in rare and common disorders, including migraine.

1973 • 7 citations

820 ADDITIONAL RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLS)FOR DETECTION OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY

1985 • 1 citations

1252 NATURAL HISTORY AND DIAGNOSTIC DELAY IN PARTIAL ORNITHINE TRANSCARBAMYLASE DEFICIENCY (POTCD)

1985 • 1 citations