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1,204 Possible Causes for 8, Argininosuccinate, pseudogene, synthetase

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  • Lysinuric Protein Intolerance

    In our cohort of 37 Finnish patients with LPI, 8 (8-52 years of age) have been diagnosed with hypocarnitinemia.[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] 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]

  • Hyperammonemia

    All 8 patients were treated with hemodialysis, 7 of 8 patients were treated with bowel decontamination, and 5 of 8 patients were treated with nitrogen scavenging agents.[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]

  • Histidinemia

    Mol Bio Med . 8 (1): 101–116. PMID 1943682 . a b Lam WK, Cleary MA, Wraith JE, Walter JH (1996). "Histidinemia: a benign metabolic disorder" .[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 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]

  • Isovaleric Acidemia

    IVA was detected by NBS in 8 patients (prevalence of 1/326 629).[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] Its pathophysiological process is mainly via the competitive inhibition of N-acetylglutamate synthetase.[ncbi.nlm.nih.gov]

  • Argininosuccinic Aciduria

    Wen W 1 , Yin D 2, 3 , Huang F 4 , Guo M 5 , Tian T 6, 7 , Zhu H 8, 9 , Yang Y 10, 11, 12 .[ncbi.nlm.nih.gov] 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

    Resistance to colistin evolved in one strain isolated from a patient who had received colistin orally for 8 days.[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] 8 16/8 16/8 4 Ampicillin 16 16 16 16 16 16 5 Aztreonam 8 8 8 8 8 8 6 Cefazolin 16 16 16 16 16 16 7 Cefepime 8 8 8 8 8 8 8 Cefotaxime 8 8 8 8 8 8 9 Cefotetan 16 16 16 16 16[trivedieffect.com]

  • Urea Cycle Disorder

    Yoshitoshi-Uebayashi EY 1 , Toyoda T 2 , Yasuda K 1 , Kotaka M 2 , Nomoto K 3 , Okita K 2 , Yasuchika K 4 , Okamoto S 4 , Takubo N 5 , Nishikubo T 6 , Soga T 7 , Uemoto S 4 , Osafune K 8[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

    It consisted of a run-in period of 4 weeks continued subsequently by an 8-week treatment period.[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] Continued involution of IHs was observed during the follow-up period of 8-19 months (mean 15·8) in all subjects.[ncbi.nlm.nih.gov] This study included 27 patients undergoing surgical excision (n 8), propranolol (n 11) and captopril (n 8) treatment.[ncbi.nlm.nih.gov]

    Missing: pseudogene
  • Fasciola Gigantica

    Download to your computer Mac Windows 8, 8 RT and Modern UI Windows 8 desktop, Windows 7, XP & Vista Kindle Cloud Reader Read instantly in your browser[amazon.com] A moderate enzymatic activity was recorded for argininosuccinate synthetase and argininosuccinate lyase.[ncbi.nlm.nih.gov] Parasitol Res. 2015 Jan;114(1):133-40. doi: 10.1007/s00436-014-4170-8. Epub 2014 Oct 17.[ncbi.nlm.nih.gov] Korean J Parasitol. 2011 Mar;49(1):65-8. doi: 10.3347/kjp.2011.49.1.65. Epub 2011 Mar 18.[ncbi.nlm.nih.gov]

    Missing: pseudogene

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