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Urea Cycle Disorders, Inborn
Known as:
cycle disorders urea
, Disorder of Urea Cycle Metabolism
, Urea Cycle Disorder
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Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial…
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National Institutes of Health
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Related topics
Related topics
22 relations
Narrower (8)
3-methylcrotonyl CoA carboxylase 1 deficiency
Arginosuccinic aciduria
Citrullinemia
HHH syndrome
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Broader (2)
Amino Acid Metabolism, Inborn Errors
Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease
In Blood
Inborn Errors of Metabolism
Late-onset congenital adrenal hyperplasia
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice
Yang Yang
,
Lili Wang
,
+9 authors
James M. Wilson
Nature Biotechnology
2016
Corpus ID: 2879660
Many genetic liver diseases in newborns cause repeated, often lethal, metabolic crises. Gene therapy using nonintegrating viruses…
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Highly Cited
2014
Highly Cited
2014
BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
Brendan H. Lee
,
Brendan H. Lee
,
+29 authors
B. Scharschmidt
Genetics in Medicine
2014
Corpus ID: 8857970
Purpose:The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle…
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Review
2012
Review
2012
Suggested guidelines for the diagnosis and management of urea cycle disorders
J. Häberle
,
N. Boddaert
,
+12 authors
C. Dionisi-Vici
Orphanet Journal of Rare Diseases
2012
Corpus ID: 7243437
Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts…
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Review
2010
Review
2010
Helicobacter pylori treatment in the era of increasing antibiotic resistance
D. Graham
,
L. Fischbach
Gut
2010
Corpus ID: 19332022
With few exceptions, the most commonly recommended triple Helicobacter pylori regimen (proton pump inhibitor (PPI), amoxicillin…
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Review
2005
Review
2005
Almost all about citrulline in mammals
E. Curis
,
I. Nicolis
,
+4 authors
L. Cynober
Amino Acids
2005
Corpus ID: 23877884
Summary.Citrulline (Cit, C6H13N3O3), which is a ubiquitous amino acid in mammals, is strongly related to arginine. Citrulline…
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Highly Cited
2001
Highly Cited
2001
Urea cycle enzymes
S. Brusilow
2001
Corpus ID: 89057343
Review
2001
Review
2001
Alternative pathway therapy for urea cycle disorders: twenty years later.
M. Batshaw
,
R. MacArthur
,
M. Tuchman
Jornal de Pediatria
2001
Corpus ID: 10403697
Alternative pathway therapy is currently an accepted treatment approach for inborn errors of the urea cycle. This involves the…
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Highly Cited
1999
Highly Cited
1999
PLANT DIVERSITY IN MANAGED FORESTS: UNDERSTORY RESPONSES TO THINNING AND FERTILIZATION
Sean Thomas
,
Charles B. Halpern
,
D. Falk
,
Denise A. Liguori
,
K. A. Austin
1999
Corpus ID: 33507317
2 Environmental Forestry Research, Weyerhaeuser Company, Tacoma, Washington 98422 USA Abstract. Although most temperate forests…
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Review
1993
Review
1993
Helicobacter pylori and peptic ulcer disease.
A. Ateshkadi
,
Lam Np
,
Johnson Ca
Clinical Pharmacist
1993
Corpus ID: 7535902
The role played by Helicobacter pylori in the pathogenesis of peptic ulcer disease (PUD) is discussed, and the epidemiology…
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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
Mardell Boulevard
Journal of Bacteriology
1946
Corpus ID: 26631059
Bacterial decomposition of urea has been especially useful in distinguishing between members of the Proteus group and other fecal…
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