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Citrullinemia
Known as:
Citrullinemias, Classic
, Deficiency Disease, Argininosuccinic Acid Synthase
, Deficiency, ASS
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A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In…
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National Institutes of Health
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Related topics
Related topics
30 relations
ARGININOSUCCINATE SYNTHASE
ASS1 gene
ASS1, ARG157HIS
Alkalosis, Respiratory
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Narrower (3)
Adult-onset citrullinemia type 2
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CTNL1
Broader (1)
Enzyme Deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Diversion of aspartate in ASS1-deficient tumors fosters de novo pyrimidine synthesis
S. Rabinovich
,
Lital N Adler
,
+14 authors
A. Erez
Nature
2015
Corpus ID: 4448627
Cancer cells hijack and remodel existing metabolic pathways for their benefit. Argininosuccinate synthase (ASS1) is a urea cycle…
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Review
2013
Review
2013
The VIMOS VLT Deep Survey final data release: a spectroscopic sample of 35 016 galaxies and AGN out to z ~ 6.7 selected with 17.5 ≤ iAB ≤ 24.75
O. Fèvre
,
P. Cassata
,
+44 authors
E. Zucca
2013
Corpus ID: 4807190
We describe the completed VIMOS VLT Deep Survey, and the final data release of 35016 galaxies and type-I AGN with measured…
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Highly Cited
2009
Highly Cited
2009
The National in Everyday Life: A Critical Engagement with Michael Billig's Thesis of Banal Nationalism
Michael Skey
2009
Corpus ID: 142858335
This paper is designed to provide a critical engagement with Michael Billig's seminal thesis of Banal Nationalism (1995), perhaps…
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Review
2008
Review
2008
Citrulline as a biomarker of intestinal failure due to enterocyte mass reduction.
Pascal P Crenn
,
B. Messing
,
L. Cynober
Clinical Nutrition
2008
Corpus ID: 206821514
Review
2004
Review
2004
The mitochondrial transporter family (SLC25): physiological and pathological implications
F. Palmieri
Pflügers Archiv
2004
Corpus ID: 25304722
The mitochondrial carriers (MCs) shuttle a variety of metabolites across the inner mitochondrial membrane (i.m.m.). In man they…
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Highly Cited
2004
Highly Cited
2004
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers
B. J. Dillon
,
V. Prieto
,
+4 authors
M. A. Clark
Cancer
2004
Corpus ID: 31553513
Argininosuccinate synthetase (ASS) was the first of two enzymes to convert citrulline to arginine. This pathway allowed cells to…
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Highly Cited
2004
Highly Cited
2004
Toxoplasma gondii lacks the enzymes required for de novo arginine biosynthesis and arginine starvation triggers cyst formation.
B. A. Fox
,
Jason P. Gigley
,
D. Bzik
International Journal of Parasitology
2004
Corpus ID: 25777083
Highly Cited
2001
Highly Cited
2001
Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria
L. Palmieri
,
B. Pardo
,
+9 authors
F. Palmieri
EMBO Journal
2001
Corpus ID: 26669608
The mitochondrial aspartate/glutamate carrier catalyzes an important step in both the urea cycle and the aspartate/malate NADH…
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Highly Cited
1994
Highly Cited
1994
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.
Andrew Green
,
Philip H. Johnson
,
J. R. Yates
Human Molecular Genetics
1994
Corpus ID: 12701077
We have previously demonstrated allele loss in hamartomas from patients with tuberous sclerosis for markers spanning the tuberous…
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Highly Cited
1963
Highly Cited
1963
Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency
N. Carson
,
D. C. Cusworth
,
C. Dent
,
C. Field
,
D. W. Neill
,
R. Westall
Archives of Disease in Childhood
1963
Corpus ID: 27075184
It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the…
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