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Citrullinemia

Known as: Citrullinemias, Classic, Deficiency Disease, Argininosuccinic Acid Synthase, Deficiency, ASS 
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In… Expand
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Abstract High performance dual function of polyaniline (PANI) with brachyplast structure is synthesized by using a two-step… Expand
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Highly Cited
2011
Highly Cited
2011
We followed the abundance and distribution of ammonia-oxidizing Archaea (AOA) in the North Sea from April 2003 to February 2005… Expand
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Highly Cited
2010
Highly Cited
2010
OBJECTIVE To describe the clinical manifestations of the anti-synthetase syndrome (ASS) specifically associated with anti-alanyl… Expand
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Highly Cited
2009
Highly Cited
2009
This paper is designed to provide a critical engagement with Michael Billig's seminal thesis of Banal Nationalism (1995), perhaps… Expand
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Highly Cited
2005
Highly Cited
2005
SummaryA 19-month-old girl with developmental delay was found to have moderately elevated plasma citrulline and mildly elevated… Expand
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Review
2004
Review
2004
The mitochondrial carriers (MCs) shuttle a variety of metabolites across the inner mitochondrial membrane (i.m.m.). In man they… Expand
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Argininosuccinate synthetase (ASS) was the first of two enzymes to convert citrulline to arginine. This pathway… Expand
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Highly Cited
2001
Highly Cited
2001
The mitochondrial aspartate/glutamate carrier catalyzes an important step in both the urea cycle and the aspartate/malate NADH… Expand
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Highly Cited
2000
Highly Cited
2000
BACKGROUND & AIMS No blood marker assessing the functional absorptive bowel length has been identified. Plasma citrulline, a… Expand
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Highly Cited
1994
Highly Cited
1994
We have previously demonstrated allele loss in hamartomas from patients with tuberous sclerosis for markers spanning the tuberous… Expand
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