Keywords: اختلال چرخه یورو; Newborn screening; Ornithine transcarbamylase deficiency; Urea cycle disorder; False positives; Region 4 Stork;
مقالات ISI اختلال چرخه یورو (ترجمه نشده)
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Keywords: اختلال چرخه یورو; Arginase deficiency; Hyperargininemia; Ammonia; Urea cycle disorder; Treatment; Cellular transplant; FAH; fumarylacetoacetate hydrolase; FRG; Fahâ/â/Rag2â/â/Il2rγâ/â mouse; CKO; conditional knockout; NTBC; 2-(2-nitro-4-trifluoromethylbenzoyl)
Keywords: اختلال چرخه یورو; Urea cycle disorders; Glycerol phenylbutyrate; Children; Infants; Ammonia; Glutamine; ARG1; arginase 1; ASL; argininosuccinate lyase; ASS; argininosuccinate synthetase; BMI; body mass index; BSA; body surface area; CDC; Centers for Disease Control and Pre
Keywords: اختلال چرخه یورو; protein metabolism; urea cycle disorder; organic acidemia; protein intake; calorie intake; protein/energy ratio; %fatmass; Percentage body fat mass; AAF; Amino acid-based formula; BIA; Bioelectrical impedance analysis; BMI; Body mass index; BMR; Basal m
Keywords: اختلال چرخه یورو; Glycerol phenylbutyrate; RAVICTI; Ammonia; Metabolic disorders; GPB; glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate), also referred to as HPN-100 or RAVICTI®); NaPBA; sodium phenylbutyrate; UCD; urea cycle disorder;
Keywords: اختلال چرخه یورو; Urea cycle disorder; Citrullinemia; Argininosuccinate synthetase; Prenatal diagnosis; Amniotic fluid; Chorionic villus sampling;
Keywords: اختلال چرخه یورو; NaPBA; sodium phenylbutyrate; UCD; urea cycle disorder; BCAA; branched-chain amino acids; RDCRN; Rare Diseases Clinical Research Network; GLM; generalized linear model; OTCD; ornithine transcarbamylase deficiency; BCKDK; branched-chain ketoacid dehydrogen
Keywords: اختلال چرخه یورو; Urea cycle disorder; Malnutrition; Hyperammonemia;
Keywords: اختلال چرخه یورو; UCD; urea cycle disorder; OTCD; ornithine transcarbamylase deficiency; CTMT; Comprehensive Trail Making Test; WASI; Wechsler Abbreviated Scale of Intelligence; ANCOVA; analysis of covariance; WIS; Wechsler Scale of Intelligence; BRIEF; Behavior Rating Inv
Keywords: اختلال چرخه یورو; NBS; newborn screening; TMS; tandem mass spectrometry; DBS; dried blood spots; OA; organic acidaemias; PA; propionic acidaemia; IVA; isovaleric acidaemia; MMA; methylmalonic acidaemia; UCD; urea cycle disorders; CIT-I; argininosuccinate synthetase deficie
Keywords: اختلال چرخه یورو; ASL; argininosuccinate lyase; ASS; argininosuccinate synthase; AUC0-24; 24Â hour area under the curve; GPB; glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate), also referred to as HPN-100 or RAVICTI®); NaPBA; sodium phenylbutyrat
Keywords: اختلال چرخه یورو; IV; Intravenous; LOS; Length of stay; OTC; Ornithine transcarbamylase; RDCRN; Rare Diseases Clinical Research Network; UCD; Urea cycle disorder; UCDC; Urea Cycle Disorders Consortium;
AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice
Keywords: اختلال چرخه یورو; OTC; ornithine transcarbamylase; Het; heterozygous; UCD; urea cycle disorder; KO; knockout; AAV; adeno-associated virus; GC; genome copies; PCR; polymerase chain reaction; WT; wild type; STD; standard deviation; Liver fibrosis; OTC deficiency; AAV; Gene t
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs
Keywords: اختلال چرخه یورو; Argininosuccinate synthetase; Citrullinemia type 1; iPSC; Hepatocyte; l-arginine; Urea cycle disorder;
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels
Keywords: اختلال چرخه یورو; Phenylbutyrate; Phenylacetate; Phenylacetylglutamine; Glutamine; Urea cycle disorder; UPLC-MS/MS;
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
Keywords: اختلال چرخه یورو; 3-OH-B; 3-Hydroxy-butyrate; AcAc; Acetoacetate; BW; Bodyweight; CA VA; Carbonic anhydrase VA; CPS1; Carbamoyl phosphate synthetase 1; HSCT; Hematopoietic stem cell transplantation; NAGS; N-acetyl-glutamate synthase; NCG; N-carbamyl-glutamate; OTC; Ornithi
Neonatal Citrullinemia: Novel, Reversible Neuroimaging Findings Correlated With Ammonia Level Changes
Keywords: اختلال چرخه یورو; citrullinemia; urea cycle disorder; neonate; ammonia;
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio
Keywords: اختلال چرخه یورو; GEE; generalized estimating equations; GPB; glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate), also referred to as HPN-100 or RAVICTI®); HE; hepatic encephalopathy; NaPBA; sodium phenylbutyrate (BUPHENYL®); PAA; phenylacetic acid
Recurrent somnolence in a 17-month-old infant: Late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe)
Keywords: اختلال چرخه یورو; Urea cycle disorder; OTC (ornithine transcarbamylase) deficiency; Recurrent somnolence; Hyperammonemiabw, body weight; cCT, cerebral computed tomography; cMRI, cerebral magnetic resonance imaging; EEG, electroencephalogram; OTC, ornithine transcarbamylase
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate
Keywords: اختلال چرخه یورو; ASA; Argininosuccinic acid; ASL; Argininosuccinate lyase; ASS; Argininosuccinate synthetase; AUC0-24; 24-hour area under the curve; DSMB; Data and safety monitoring board; G tube; Gastrostomy tube; GPB; Glycerol phenylbutyrate; NaPBA; Sodium phenylbutyrat
Early Clinical Manifestations and Eating Patterns in Patients with Urea Cycle Disorders
Keywords: اختلال چرخه یورو; ASL; Argininosuccinic acid lyase; ASS; Argininosuccinic acid synthetase; CPS1; Carbamoyl phosphate synthetase 1; OTC; Ornithine transcarbamylase; UCD; Urea cycle disorder;
Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder
Keywords: اختلال چرخه یورو; Lysinuric protein intolerance; Urea cycle disorder; Arginine; Macrophage activation syndrome
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders
Keywords: اختلال چرخه یورو; ASL; argininosuccinate lyase deficiency; ASS; argininosuccinate synthetase deficiency; AUC0-24; 24Â hour area under the curve; CV%; coefficient of variation; DSMB; Data Safety and Monitoring Board; GPB; glycerol phenylbutyrate (generic name for glyceryl
Ammonium metabolism in humans
Keywords: اختلال چرخه یورو; NH3; ammonia; NH4+; ammonium ions; AST; aspartate aminotransferase; ALT; alanine aminotransferase; BCAT; branched-chain amino acids aminotransferase; KGA; kidney-type glutaminase; GAC; glutaminase C; GAM; glutaminase M; GDH1; glutamate dehydrogenase-1; GD
Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report
Keywords: اختلال چرخه یورو; Neonate; Hyperammonemia; Urea cycle disorder; Ornithine transcarbamylase deficiency; Occipital lesion;
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
Keywords: اختلال چرخه یورو; Urea cycle disorder; Rare disease
Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening
Keywords: اختلال چرخه یورو; Argininosuccinate lyase deficiency; Argininosuccinic aciduria; Newborn screening; Urea cycle disorder; Outcome; Hyperammonemia