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1,204 Possible Causes for 9, Argininosuccinate, pseudogene, synthetase

  • Lysinuric Protein Intolerance

    The ICD 9 Code for Other disturbances of straight-chain amino-acid metabolism is listed as 270.7.[emedcodes.com] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] Further, the level of argininosuccinate synthetase (ASS), a urea cycle enzyme, was analyzed and it was found to be below the normal level.[ncbi.nlm.nih.gov] Each number represents the following enzymes: 1, carbamylphosphate synthetase; 2, ornithine carbamyltransferase; 3, argininosuccinate synthetase; 4, argininosuccinate lyase[academic.oup.com]

  • Aspartylglucosaminuria

    This mutation causes abnormal splicing of glycosylasparaginase pre-mRNA by joining exon 7 to 9 and excluding 134 bp exon 8.[ncbi.nlm.nih.gov] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] aciduria , Hyperammonemia ) - Glutaric acidemia type 1 - Sarcosinemia Carbohydrate Lactose intolerance - Glycogen storage disease ( type I , type II , type III , type IV[wikidoc.org] Thirteen patients underwent a prospective 3.0 T MRI (5 male, 8 female, aged 9-45 years).[ncbi.nlm.nih.gov]

  • Histidinemia

    Newsletters Auto-open Coding Tips Auto-open Web-A-Code - Useful Web Links Auto-open Medical Laboratory Tests Auto-open ICD-10 MS-DRG Grouper Logic Auto-open ICD-10 & ICD-9[findacode.com] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] aciduria assay autosomal Beutler biochemical bivalents blood phenylalanine Cavalli-Sforza chiasmata Child chromosome Clin clinical coefficient concentrations congenital adrenal[books.google.ro] […] syndrome , Oculocerebrorenal syndrome ) - Sulfur ( Homocystinuria , Cystathioninuria ) - Urea cycle disorder ( N-Acetylglutamate synthase deficiency , Carbamoyl phosphate synthetase[wikidoc.org]

  • Hyperammonemia

    The patient developed acute idiopathic hyperammonemia after 5 days of chemotherapy and died 9 days after chemotherapy.[ncbi.nlm.nih.gov] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] (The other two are called citrullinemia and argininosuccinic aciduria.)[britannica.com] […] information 1 Department of Obstetrics and Gynecology, Kinki University School of Medicine, Osaka-sayama, Osaka, Japan. [email protected] Abstract Carbamyl phosphate synthetase[ncbi.nlm.nih.gov]

  • Isovaleric Acidemia

    Orphanet Journal of Rare Diseases . 7 : 9. doi : 10.1186/1750-1172-7-9 . ISSN 1750-1172 . PMC 3292949 . PMID 22277694 . "Isovaleric acidemia" .[en.wikipedia.org] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] aciduria , Hyperammonemia ) - Glutaric acidemia type 1 - Sarcosinemia Carbohydrate Lactose intolerance - Glycogen storage disease ( type I , type II , type III , type IV[wikidoc.org] Its pathophysiological process is mainly via the competitive inhibition of N-acetylglutamate synthetase.[ncbi.nlm.nih.gov]

  • Argininosuccinic Aciduria

    You are viewing the 2012 version of ICD-9-CM 270.6 . More recent version(s) of ICD-9-CM 270.6 : 2013 2014 2015 .[icd9data.com] Trevisson E, Salviati L, Baldoin MC et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.[els.net] Argininosuccinic aciduria , also called argininosuccinic acidemia , is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in[en.wikipedia.org] These findings suggest that the genes for argininosuccinate synthetase in most citrullinemia patients are transcribed and produce stable mRNA.[jci.org]

  • Citrobacter

    Fourteen isolates (22.2%) also carried ESBLs: 8 CTX-M-9 plus SHV-12, 2 CTX-M-9, 2 SHV-12 and 2 CTX-M-15.[ncbi.nlm.nih.gov] Meanwhile, a truncated qnrB-like pseudogene was identified in C. freundii ATCC 8090(T) and ATCC 43864.[ncbi.nlm.nih.gov] […] down-regulated proteins analyzed on the 1D-PAGE was reconfirmed using 2D-PAGE were universal stress protein A, Helix-turn-helix, FBKP-type peptidyl-prolyl cis-trans isomerase, and argininosuccinate[ijbs.com] J Med Microbiol. 2013 Sep;62(Pt 9):1332-7. doi: 10.1099/jmm.0.057091-0. Epub 2013 Jun 5.[ncbi.nlm.nih.gov]

  • Urea Cycle Disorder

    We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most[ncbi.nlm.nih.gov] […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com] Abstract Argininosuccinic aciduria (ASA) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate lyase (ASL) with a wide clinical spectrum[ncbi.nlm.nih.gov] Abstract Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia[ncbi.nlm.nih.gov]

  • Captopril

    […] angiotensin-converting enzyme (ACE) inhibitor captopril used to treat hypertension and for renal protection inhibits 72-kDa matrix metalloproteinase-2 and 92-kDa matrix metalloproteinase-9,[ncbi.nlm.nih.gov] In particular, we emphasize argininosuccinate synthetase as a new functional target for one of bradykinin-potentiating peptides found in B. jararaca, Bj-BPP-10c.[ncbi.nlm.nih.gov] We present the clinical manifestation and successfully treatment of 9 g of propafenone and 1 g captopril intoxication in an 18-year-old female.[ncbi.nlm.nih.gov] -12, cyclooxygenase-1 and -2, cathepsin B, Hedgehog, interleukin-6, 5-lipoxygenase, matrix metalloproteinase -2 and -9, mammalian target of rapamycin, neurokinin-1, p-gp[ncbi.nlm.nih.gov]

    Missing: pseudogene
  • Glucagon

    These effects were disinhibited by exendin(9-39)amide, L-NMMA, DDA, or TTX. GLP-1 and GLP-2 were localized to epithelial cells, GLP-1 also at myenteric neurons.[ncbi.nlm.nih.gov] These results indicate that glucagon significantly increases the urinary excretion of urea in the late onset form of argininosuccinate synthetase deficiency and that it may[ncbi.nlm.nih.gov] , Hang Y 2 , Shostak A 1 , Poffenberger G 1 , Hart N 1 , Prasad N 3 , Phillips N 1 , Levy SE 3 , Greiner DL 4 , Shultz LD 5 , Bottino R 6 , Kim SK 2, 7 , Powers AC 1, 8, 9[ncbi.nlm.nih.gov] Knudsen JG 1 , Ringgaard AK 3, 4 , Chapman CE 1 , Gonzalez-Alvarez A 1 , Surdo NC 5 , Zaccolo M 5 , Basco D 6 , Johnson PRV 1, 7 , Ramracheya R 1 , Rutter GA 8 , Galione A 9[ncbi.nlm.nih.gov]

    Missing: pseudogene

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