Carbamoyl phosphate synthetase I deficiency - Genetics Home Reference
Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions
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http://ghr.nlm.nih.gov/condition=carbamoylphosphatesynthetas...
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BioPortfolio - Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease - BioPortfolio - Indepth. ... Urea Cycle Disorders; Carbamoylphosphate Synthetase I Deficiency Disease; ...
http://www.bioportfolio.com/indepth/Carbamoyl-Phosphate_Synt...
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Carbamoyl-phosphate synthase I deficiency disease (ornithine ...
A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on ...
http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&...
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BioPortfolio - Carbamoyl-Phosphate Synthase I Deficiency Disease ...
Urea Cycle Disorders; Carbamoylphosphate Synthetase I Deficiency Disease; Ornithine. Transcarbamylase Deficiency Disease; Citrullinemia ...
http://www.bioportfolio.com/indepth/Carbamoyl-Phosphate_Synt...
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(Carbamoyl-Phosphate Synthase I Deficiency Disease[MAJR]) AND ...
1: Aoshima T, Kajita M, Sekido Y, Mimura S, Itakura A, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T. Carbamoyl phosphate synthetase I deficiency:
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http://ghr.nlm.nih.gov/exit?to=www.ncbi.nlm.nih.gov&uid=7bH4...
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[Carbamoyl phosphate synthetase I deficiency]
Carbamoyl-Phosphate Synthase I Deficiency Disease*/diagnosis; Carbamoyl- Phosphate Synthase I Deficiency Disease*/therapy; Diagnosis, Differential;
Humans ...
http://www.ncbi.nlm.nih.gov/pubmed/12013996...
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Carbamoyl phosphate synthase 1 deficiency
Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency; CPS 1 deficiency ... Click on The NORD Rare Disease Community to learn more. ...
http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&...
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Carbamoyl phosphate synthetase I deficiency: molecular genetic ...
Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis* Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics. DNA Primers Diagnosis, Differential ...
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&d...
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Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency ...
Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive ... region revealed a disease-associated homozygous Thr544Met mutation in CPS1. ...
http://ghr.nlm.nih.gov/exit?to=www.ncbi.nlm.nih.gov&uid=7bH4...
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[Carbamoyl phosphate synthetase I deficiency]
Publication Types Review MeSH Terms Carbamoyl-Phosphate Synthase I Deficiency Disease* Humans Infant, Newborn PMID: 11462458 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&d...
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