Keywords: هموسیستینوری; Amino acid metabolism; Low protein products; Phenylketonuria; Tyrosinemia; Maple Syrup Urine Disease; Homocystinuria; Saudi Arabia;
مقالات ISI هموسیستینوری (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: هموسیستینوری; Methylmalonic aciduria; Homocystinuria; Early onset; Gene mutations; Outcome;
Keywords: هموسیستینوری; Homocysteine; Methionine; Tandem mass spectrometry; Homocystinuria; cblC; Sulfocysteinuria;
Keywords: هموسیستینوری; Cerebral sinovenous thrombosis; Homocystinuria; Paediatric;
Keywords: هموسیستینوری; glutaric aciduria type I; homocystinuria; isovaleric aciduria; maple syrup urine disease; medium chain acyl-CoA dehydrogenase deficiency; newborn screening; phenylketonuria; tandem mass spectrometry
Keywords: هموسیستینوری; Whole genome SNP homozygosity mapping; Intellectual disability; Homocystinuria; Diagnosis; Cystathionine beta-synthase (CBS); p.Gly116Arg;
Keywords: هموسیستینوری; connective tissue disorder; Ehlers–Danlos syndrome; homocystinuria; hypermobility; juvenile dermatomyositis; juvenile localized scleroderma and systemic sclerosis; juvenile SLE; Marfan's syndrome; Raynaud's phenomenon
Keywords: هموسیستینوری; Hcy; homocysteine; tHcy; total homocysteine; HHCy; hyperhomocysteine; MTHFR; methylene tethrahydrofolate reductase; CBS; cystathionine β-synthase; CI; Confidence Intervals; Homocysteine; Hyperhomocysteinemia; Homocystinuria; Thrombosis; Thrombophilia;
Keywords: هموسیستینوری; Homocystinuria; Betaine; Homocysteine; Methionine; Protein restricted diet;
Keywords: هموسیستینوری; Homocystinuria; Homocysteine; Hyperhomocysteinemia; Folate; Vitamin B12
Crystal structure of cystathionine β-synthase from honeybee Apis mellifera
Keywords: هموسیستینوری; CBS; cystathionine β-synthase; CBSDH; (CBS)-deficient homocystinuria; AdoMet; S-adenosyl-l-methionine; PLP; pyridoxal-5â²-phosphate; AmCBS; cystathionine β-synthase from Apis mellifera; dCBS; cystathionine β-synthase from Drosophila melanogaster CBS;
MinireviewCystathionine β-synthase deficiency: Of mice and men
Keywords: هموسیستینوری; Homocystinuria; Aminoaciduria; Mouse model; Methionine; Recessive; Genetic disorder;
Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans
Keywords: هموسیستینوری; Cbl; cobalamin; MMA; methylmalonic acid; MeCbl; methylcobalamin; AdoCbl; adenosylcobalamin; MTR; methionine synthase; MCM; methylmalonyl-CoA mutase; PCC; propionyl-CoA carboxylase; ABC; ATP-binding cassette; TCA; trichloroacetic acid; NBF; nucleotide bind
Homocystinuria: Therapeutic approach
Keywords: هموسیستینوری; Homocystinuria; Homocysteine toxicity; Dietary treatment of homocystinuria; Cystathionine β-synthase; Protein homocysteinylation; New therapeutic strategies
Enzymatic diagnosis of homocystinuria by determination of cystathionine-Ã-synthase activity in plasma using LC-MS/MS
Keywords: هموسیستینوری; CBS; Cystathionine Ã-synthase; EDTA; Ethylenediaminetetracetic acid; DTT; Dithiothreitol; IEM; Inborn errors of metabolism; IS; Internal standard; LC-MS/MS; Liquid chromatography-tandem spectrometry; MoM; Multiples of median; PLP; Pyridoxal 5â²-phosphat
Protein N-homocysteinylation: From cellular toxicity to neurodegeneration
Keywords: هموسیستینوری; Amyloids; Homocystinuria; Homocysteine; Homocysteine thiolactone; Neurodegenerative disease; Protein N-homocysteinylation;
Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance
Keywords: هموسیستینوری; Cobalamin C defect; Organic acidemia; Homocystinuria; Ophthalmology; Maculopathy; Oxidative stress;
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type
Keywords: هموسیستینوری; Methylmalonic acidemia; Homocystinuria; Cobalamin C; Neurodevelopment; Newborn screening; MMACHC;
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning
Keywords: هموسیستینوری; Cobalamin; Traffic; Homocystinuria; B12
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience
Keywords: هموسیستینوری; ASL; argininosuccinate lyase; ASS; argininosuccinate synthetase; CPS1; carbamoylphosphate synthetase I; HCY; homocystinuria; HPA; hyperphenylalaninemia; HPLC; high-performance liquid chromatography; IEM; inborn error of metabolism; MSUD; maple syrup urine
Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection
Keywords: هموسیستینوری; Galactosemia; Homocystinuria; Newborn screening; Simultaneous diagnosis; Galactose; Methionine;
Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao
Keywords: هموسیستینوری; Homocystinuria; Prevalence; Taiwanese; Austronesian; Chinese; Cystathionine beta-synthase
A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts
Keywords: هموسیستینوری; CBS; cystathionine β-synthase; Hcy; homocysteine; Cysta; cystathionine; SAM; S-adenosylmethione; EDTA; ethylenedinitrilotetraacetic acid; PLP; pyridoxal-5-phosphate; SAH; S-adenosylhomocysteine; Cystathionine β-synthase; Homocystinuria; Liquid chromatog
Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene
Keywords: هموسیستینوری; cobalamin; homocystinuria; methylmalonic aciduria; MMACHC; vitamin B12
Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine
Keywords: هموسیستینوری; CBS; cystathionine β-synthase; Hcy; homocysteine; MTHFR; methylene-H4folate reductase; ROS; reactive oxygen species; MDA; malondialdehyde; TAS; total antioxidant status; Met; methionine; PBSG; protein-bound sulfhydryl groups; Homocystinuria; Oxidative st
Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria
Keywords: هموسیستینوری; Methylmalonic aciduria; Homocystinuria; Purine; Pyrimidine; Organic acidurias; Cobalamin diseases; HPLC; Ion trap; Orotic aciduria
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment
Keywords: هموسیستینوری; ALT; Alanine aminotransferase; aPTT; activated partial thromboplastin time; BHMT; betaine-homocysteine S-methyltransferase; HCU; classical homocystinuria; CBS; cystathionine beta-synthase; CGL; cystathionine gamma-lyase; DMG; dimethylglycine; ER; endoplas
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type
Keywords: هموسیستینوری; Methylmalonic aciduria; Homocystinuria; ROS; Apoptosis; PCR array; Stress-kinase
Vascular and connective tissue features in 5 Italian patients with homocystinuria
Keywords: هموسیستینوری; Connective tissue manifestations; CBS gene; Homocystinuria; Vascular clinical manifestations
HomocisteÃna en la clÃnica humana
Keywords: هموسیستینوری; Hiperhomocisteinemia; Homocistinuria; Deficiencia de vitamina B12; Deficiencia de folatos; Aterotrombosis; Hyperhomocysteinemia; Homocystinuria; Vitamin B12 deficiency; Folate deficiency; Atherothrombosis;
Profiling of oxidative stress in patients with inborn errors of metabolism
Keywords: هموسیستینوری; Oxidative stress; Free radicals; Reactive oxygen species; Reactive nitrogen species; Inborn errors of metabolism; Homocystinuria; Maple syrup urine disease; Cobalamin disorders; Propionic acidemia; Ornithine transcarbamylase deficiency
Purification and characterization of the wild type and truncated human cystathionine β-synthase enzymes expressed in E. coli
Keywords: هموسیستینوری; Homocystinuria; S-adenosylmethionine; Pyridoxal-5′ phosphate; Heme
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
Keywords: هموسیستینوری; Homocystinuria; Carriers; Homocysteine; Hyperhomocysteinemia; Thrombosis; Vitamin B12; Folic acid;
Chemical chaperone rescue of mutant human cystathionine β-synthase
Keywords: هموسیستینوری; Homocystinuria; Methionine metabolism; Osmolytes; Chaperone; Mutation;
Sectoranopia: A stroke in the lateral geniculate nucleus or optic radiations?
Keywords: هموسیستینوری; Optic tract; Lateral geniculate nucleus; Optic radiations; Homocystinuria; Sectoranopia; Cerebrovascular accident
Hyperhomocystéinémie sévère révélant une homocystinurie chez deux jeunes adultes présentant un phénotype peu marqué
Keywords: هموسیستینوری; Hyperhomocystéinémie; Homocystinurie; Cystathionine bétasynthase; Thrombose veineuse profonde; Adulte jeuneHyperhomocysteinemia; Homocystinuria; Cystathionine beta-synthase; Venous thromboembolism; Young adult
Folic acid pretreatment prevents the reduction of Na+,K+-ATPase and butyrylcholinesterase activities in rats subjected to acute hyperhomocysteinemia
Keywords: هموسیستینوری; Homocystinuria; Metabolic disease; Homocysteine; Folic acid; Na+,K+-ATPase; Butyrylcholinesterase
Expression study of mutant cystathionine β-synthase found in Japanese patients with homocystinuria
Keywords: هموسیستینوری; Cystathionine β-synthase; Homocystinuria; Expression study
Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype–genotype correlations and ethnic-specific observations
Keywords: هموسیستینوری; cblC; Methylmalonic aciduria; Homocystinuria; MMACHC; Genotype; Phenotype; Vitamin B12; Cobalamin
The use of betaine in the treatment of elevated homocysteine
Keywords: هموسیستینوری; Betaine; Homocysteine; Homocystinuria; Remethylation disorders; Coronary artery disease; Methionine
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12
Keywords: هموسیستینوری; Cobalamin; cblC disorder; Subacute combined degeneration; Peripheral neuropathy; Neuropathology; Myelopathy; Demyelination; Methionine; Remethylation; Inborn errors of metabolism; Methylmalonic acid; Homocysteine; Homocystinuria; Methylmalonic acidemia;
Homocysteine transport by human aortic endothelial cells: Identification and properties of import systems
Keywords: هموسیستینوری; Homocysteine; Homocystine; Hyperhomocysteinemia; Homocystinuria; Homocysteine import; Cysteine transport systems; Endothelial cells; Endothelium; Cardiovascular disease
Spectrum of hypermethioninemia in neonatal screening
Keywords: هموسیستینوری; Isolated hypermethioninemia; Homocystinuria; Methionine adenosyltransferase deficiency; Neonatal screening; Taiwan; Chinese;
Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay
Keywords: هموسیستینوری; Prenatal diagnosis; Methylenetetrahydrofolate reductase; MTHFR; Linkage analysis; Homocystinuria; Homocysteine; Folate;
Determinación y utilización de la concentración plasmática de homocisteÃna en la práctica clÃnica
Keywords: هموسیستینوری; HomocisteÃna; Métodos bioquÃmicos; Homocisteinuria; Ácido fólico; Cobalamina; Homocysteine; Biochemical methods; Homocystinuria; Folate; Cobalamine;