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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase… (More)
  • table 1
Is this relevant?
Highly Cited
2007
Highly Cited
2007
BACKGROUND The combination of intravenous sodium phenylacetate and sodium benzoate has been shown to lower plasma ammonium levels… (More)
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Sodium 4-phenylbutyrate (4-PBA) is a low molecular weight fatty acid that has been used for treatment of urea cycle disorders in… (More)
Is this relevant?
Highly Cited
2003
Highly Cited
2003
OBJECTIVE Transplantation of isolated hepatocytes in animal models has been shown to correct inborn errors of metabolism. Based… (More)
  • figure 1
  • figure 2
Is this relevant?
2001
2001
The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The… (More)
  • figure 1
  • figure 2
  • table II
  • table III
  • table IV
Is this relevant?
2001
2001
Diet is one of the mainstays of the treatment of patients with urea cycle disorders. The protein intake should be adjusted to… (More)
  • table I
  • table II
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Sodium 4-phenylbutyrate (Buphenyl, 4PBA) is a new FDA approved drug for management of urea cycle disorders. We have previously… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
A causative role is now accepted for Helicobacter (formerly Campylobacter) pylori in type B gastritis, and evidence is… (More)
Is this relevant?
1991
1991
We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in… (More)
Is this relevant?
Highly Cited
1946
Highly Cited
1946
Bacterial decomposition of urea has been especially useful in distinguishing between members of the Proteus group and other fecal… (More)
  • table 1
Is this relevant?