FAQ

Urea Cycle Disorders, Inborn

Known as: cycle disorders urea, Disorder of Urea Cycle Metabolism, Urea Cycle Disorder 
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1937-2018
05010015019372017

Related topics

Related topics

24 relations

Narrower (9)

3-methylcrotonyl CoA carboxylase 1 deficiencyArginosuccinic aciduriaCitrullinemiaHHH syndrome
(More)

Broader (2)

Amino Acid Metabolism, Inborn ErrorsDisease
Aspects of mortality statisticsCarbamoyl-Phosphate Synthase I Deficiency DiseaseIn BloodInborn Errors of Metabolism
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Urea Cycle Disorders, Inborn
Urea
Carbamoyl-Phosphate Synthase I Deficiency Disease
prevention & control
In Blood
Amino Acid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
The incidence of urea cycle disorders.
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase… (More)
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Highly Cited
2007
Highly Cited
2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
BACKGROUND The combination of intravenous sodium phenylacetate and sodium benzoate has been shown to lower plasma ammonium levels… (More)
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Highly Cited
2004
Highly Cited
2004
Sodium 4-phenylbutyrate protects against cerebral ischemic injury.
Sodium 4-phenylbutyrate (4-PBA) is a low molecular weight fatty acid that has been used for treatment of urea cycle disorders in… (More)
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Highly Cited
2003
Highly Cited
2003
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder.
OBJECTIVE Transplantation of isolated hepatocytes in animal models has been shown to correct inborn errors of metabolism. Based… (More)
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2001
2001
Current strategies for the management of neonatal urea cycle disorders.
The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The… (More)
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2001
2001
The nutritional management of urea cycle disorders.
Diet is one of the mainstays of the treatment of patients with urea cycle disorders. The protein intake should be adjusted to… (More)
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Highly Cited
1998
Highly Cited
1998
A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function.
Sodium 4-phenylbutyrate (Buphenyl, 4PBA) is a new FDA approved drug for management of urea cycle disorders. We have previously… (More)
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Highly Cited
1991
Highly Cited
1991
Epidemiology of Helicobacter pylori in an asymptomatic population in the United States. Effect of age, race, and socioeconomic status.
A causative role is now accepted for Helicobacter (formerly Campylobacter) pylori in type B gastritis, and evidence is… (More)
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1991
1991
Prospective treatment of urea cycle disorders.
We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in… (More)
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Highly Cited
1946
Highly Cited
1946
Urea Decomposition as a Means of Differentiating Proteus and Paracolon Cultures from Each Other and from Salmonella and Shigella Types.
Bacterial decomposition of urea has been especially useful in distinguishing between members of the Proteus group and other fecal… (More)
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