Urea Cycle Disorders: Diagnosis, Pathophysiology, and Therapy

Mammalian Protein Metabolism

1969 • 1,828 citations

The metabolic basis of inherited disease

1995 • 1,007 citations

Incidence of malignant tumors in U.S. children

1975 • 848 citations

Progress in Liver Disease

1970 • 826 citations

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis

1984 • 402 citations

Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy.

1992 • 347 citations

Astrocytes: Form, Functions, and Roles in Disease

1994 • 278 citations

Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats

1991 • 260 citations

Ammonia-induced brain edema and intracranial hypertension in rats after portacaval anastomosis

1994 • 236 citations

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

1984 • 230 citations

Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat

1996 • 209 citations

Variation in Endogenous Nitrogen Excretion and Dietary Nitrogen Utilization as Determinants of Human Protein Requirement

1971 • 202 citations

New aspects of clinical nutrition

1983 • 191 citations

Ammonia-induced astrocyte swelling in primary culture

1991 • 184 citations

Phenylacetylglutamine May Replace Urea as a Vehicle for Waste Nitrogen Excretion

1991 • 165 citations

Swelling-activated organic osmolyte efflux: A new role for anion channels

1995 • 153 citations

Prospective treatment of urea cycle disorders

1991 • 143 citations

Natural History of Symptomatic Partial Ornithine Transcarbamylase Deficiency

1986 • 138 citations

Astrocyte Swelling in Liver Failure: Role of Glutamine and Benzodiazepines

1994 • 121 citations

Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.

1984 • 115 citations

Acute Hyperammonemia in the Young Primate: Physiologic and Neuropathologic Correlates

1983 • 110 citations

Late-onset ornithine transcarbamylase deficiency in male patients

1990 • 107 citations

Current therapy in neonatal-perinatal medicine

1990 • 78 citations

Protein Metabolism in Human Neonates: Nitrogen-Balance Studies, Estimated Obligatory Losses of Nitrogen and Whole-Body Turnover of Nitrogen

1977 • 75 citations

ARGININE THERAPY OF ARGININOSUCCINASE DEFICIENCY

1979 • 72 citations

Plasma glutamine concentration: A guide in the management of urea cycle disorders

1992 • 65 citations

Textbook of Pediatric Rheumatology

1990 • 55 citations

Neonatal screening for inborn errors of metabolism

1981 • 51 citations

Quinolinic acid in children with congenital hyperammonemia

1993 • 47 citations

Long-term survival of patients with argininosuccinate synthetase deficiency

1995 • 46 citations

Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency

1994 • 46 citations

Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.

1992 • 42 citations

Behavioral and Neurotransmitter Changes in the Urease-Infused Rat: A Model of Congenital Hyperammonemia

1986 • 41 citations

Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies

1991 • 40 citations

Stink of Stinkpot Turtle Identified: ω-Phenylalkanoic Acids

1977 • 39 citations

Brain Serotonin₂ and Serotonin_1A Receptors Are Altered in the Congenitally Hyperammonemic Sparse Fur Mouse

1992 • 36 citations

Methionine Sulfoximine Prevents the Accumulation of Large Neutral Amino Acids in Brain of Portacaval‐Shunted Rats

1985 • 36 citations

Increased Densities of Binding Sites for the Peripheral-Type Benzodiazepine Receptor Ligand [3H]PK 11195 in Congenital Ornithine Transcarbamylase-Deficient Sparse Fur Mouse

1993 • 36 citations

Evidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiency

1994 • 36 citations

Plasma α-Ketoglutarate in Urea Cycle Enzymopathies and Its Role as a Harbinger of Hyperammonemic Coma

1980 • 33 citations

Restoration of nitrogen homeostasis in a man with ornithine transcarbamylase deficiency

1993 • 31 citations

Nitrogen metabolism of infants fed human and cow's milk

1957 • 30 citations

Flumazenil: Potential implications for hepatic encephalopathy

1990 • 26 citations

Quinolinate in Brain and Cerebrospinal Fluid in Rat Models of Congenital Hyperammonemia

1992 • 24 citations

The Partition of Nitrogen in the Urine of Malnourished Jamaican Infants

1963 • 23 citations

Genetic and Metabolic Disease in Pediatrics

1985 • 23 citations

Activities of monoamine oxidase-A and -B are altered in the brains of congenitally hyperammonemic sparse-fur (spf) mice

1994 • 16 citations

Late Clinical Presentation of Partial Carbamyl Phosphate Synthetase I Deficiency

1993 • 15 citations