Keywords: متیل مالون اسیدوریا; Anthracene; Amidopyridine; Fluorescent colorimetric sensor; Naked-eye diagnosis; Methylmalonic aciduria;
مقالات ISI متیل مالون اسیدوریا (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: متیل مالون اسیدوریا; Methylmalonic aciduria; Homocystinuria; Early onset; Gene mutations; Outcome;
Keywords: متیل مالون اسیدوریا; Next generation sequencing; mut; Methylmalonic aciduria; Methylmalonyl-CoA mutase; Vitamin B12;
Keywords: متیل مالون اسیدوریا; cysteamine; cystinosis; Fabry's disease; Fanconi's syndrome; kidney failure; kidney transplantation; methylmalonic aciduria; primary hyperoxaluria;
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria
Keywords: متیل مالون اسیدوریا; 2-MCA; 2-methylcitrate; AKG; α-ketoglutarate; BBB; blood-brain barrier; CSF; cerebrospinal fluid; CNS; central nervous system; cTIN; chronic tubulointerstitial nephritis; DIV; day in vitro; FGF; fibroblast growth factor; GalC; galactocerebroside; GDH; gl
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type
Keywords: متیل مالون اسیدوریا; AdoCbl; adenosylcobalamin; ATR; ATP:cob(I)alamin adenosyltransferase; DSF; differential scanning fluorimetry; HGMD; Human Gene Mutation Database; HTS; high-throughput screening; iPSCs; induced pluripotent stem cells; MMA; methylmalonic aciduria; MUT; meth
Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans
Keywords: متیل مالون اسیدوریا; 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
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Succinate-CoA ligase deficiency; Encephalomyopathy; Mitochondrial DNA depletion; SUCLG1
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant
Keywords: متیل مالون اسیدوریا; Mitochondria; Mitochondrial DNA depletion; TCA cycle; Succinyl-CoA synthetase; Methylmalonic aciduria;
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
Keywords: متیل مالون اسیدوریا; Metabolic decompensation; Methylmalonic aciduria; N-carbamylglutamate; Organic acidurias; Propionic aciduria
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants
Keywords: متیل مالون اسیدوریا; Methylmalonyl CoA mutase; Chromatography; Novel mutation; Egyptian; Single nucleotide polymorphism; Methylmalonic aciduria; Tandem mass spectrometry
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria
Keywords: متیل مالون اسیدوریا; MMAB; Cobalamin; Methylmalonic aciduria; High resolution melting analysis; cblB;
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up
Keywords: متیل مالون اسیدوریا; AdoCbl; adenosylcobalamin; cblA; methylmalonic aciduria cblA type OMIM 251100; cblB; methylmalonic aciduria cblB type OMIM 251110; cblD-variant 2; methylmalonic aciduria and homocystinuria cblD type OMIM 277410; CKD; chronic kidney disease; eGFR; estimate
Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
Keywords: متیل مالون اسیدوریا; MMA; methylmalonic aciduria; CKD; chronic kidney disease; eGFR; glomerular filtration rate; MRI; magnetic resonance imaging; DQ; development quotient; IQ; intellectual quotient; Methylmalonic acidemia; Chronic renal disease; Renal transplantation;
An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs
Keywords: متیل مالون اسیدوریا; AMN; amnionless; BC; border collie; CUB; an ~Â 110 residue protein domain structure first defined in Complement proteins C1r/C1s, sea Urchin EGF-domain-containing protein (Uegf), Bone morphogenic protein 1 (Bmp1); Cubam; the functional receptor complex co
Anomalies du catabolisme des acides aminés à chaine ramifiée révélées par des vomissements : à propos de deux observations pédiatriques
Keywords: متیل مالون اسیدوریا; Acidurie métabolique; 3-méthylcrotonylglycinurie; Acidurie methylmalonique; Vomissement; Enfant; Branched chain organic acidurias; 3-methylcrotonylglycinuria; Methylmalonic aciduria; Vomiting; Child;
Treatment of a methylmalonyl-CoA mutase stopcodon mutation
Keywords: متیل مالون اسیدوریا; BAC; bacterial artificial chromosome; DMEM; Dulbecco's Modified Eagle's Medium; DMSO; dimethylsulfoxide; EGFP; enhanced green fluorescent protein; MCM; methylmalonyl-CoA mutase; MMA; methylmalonic aciduria; MUT; human methylmalonyl-CoA mutase gene; Mu
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria
Keywords: متیل مالون اسیدوریا; MMAA; High resolution melting analysis; Methylmalonic aciduria; cblA; Cobalamin; Scanning;
The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis
Keywords: متیل مالون اسیدوریا; Mmaa; Mmab; Mut; Vitamin B12; Cobalamin; Methylmalonic aciduria;
Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene
Keywords: متیل مالون اسیدوریا; cobalamin; homocystinuria; methylmalonic aciduria; MMACHC; vitamin B12
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
Keywords: متیل مالون اسیدوریا; BD; biotinidase deficiency; CIT 1; type I citrullinaemia; FFA; free fatty acid; GA-1; type I glutaric aciduria; GALE; classical galactosaemia; GALK; galactokinase deficiency; HPA; hyperphenylalaninaemia; IEM; inborn errors of metabolism; IQ; Intellectual
ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders
Keywords: متیل مالون اسیدوریا; CPT; carnitine palmitoyltransferase; DBS; dried blood spots; FAOD; fatty acid oxidation disorder; IVA; isovaleric aciduria; GA-I; glutaric aciduria; LCHAD; long-chain 3-hydroxyacyl-CoA dehydrogenase; MA; malonic aciduria; MAD; multiple acyl-CoA dehydrogen
Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Homocystinuria; Purine; Pyrimidine; Organic acidurias; Cobalamin diseases; HPLC; Ion trap; Orotic aciduria
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned?
Keywords: متیل مالون اسیدوریا; Vitamin B12 deficiency; Breastfeeding; Failure to thrive; Hypotonia; Developmental delay; Methylmalonic aciduria; HyperhomocysteinemiaALT, Alanine aminotransferase; AST, Aspartate aminotranferase; Cbl, Vitamin B12 (cobalamin); Hb, Hemoglobin; MCV, Mean ce
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
Keywords: متیل مالون اسیدوریا; cblC; Cobalamin; Methylmalonic aciduria; Methionine; Newborn screening; Propionylcarnitine
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Homocystinuria; ROS; Apoptosis; PCR array; Stress-kinase
Stop codon read-through of a Methylmalonic aciduria mutation
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Stop codon read-through; Genomic reporter assay
Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Cobalamin; Adenosylcobalamin; Adenosyltransferase; Mutation; Dissociation constant
Long-term outcome in methylmalonic aciduria: A series of 30 French patients
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Methylmalonyl-CoA mutase; Kidney failure; Basal ganglia
Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain
Keywords: متیل مالون اسیدوریا; methylmalonic aciduria; propionic aciduria; MCM; MUT; PCCA; developing brain; AdoCbl5; deoxyadenosylcobalamin; BCAA; branched chain amino acids; DEPC; diethylpyrocarbonate; GFAP; glial fibrillary acidic protein; HRP; horse radish peroxidase; ISH; in situ
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism
Keywords: متیل مالون اسیدوریا; CoA; coenzyme A; KGDHc; alpha-ketoglutarate dehydrogenase complex; PDHc; pyruvate dehydrogenase complex; DBH; decylubihydroquinone; TCA; tricarboxylic acid; SMOAA; short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs; GCDH; glutaryl-CoA de
Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Liver transplantation; Kidney transplantation; Immunosuppression; Neurologic complications; Metabolic stroke
Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype–genotype correlations and ethnic-specific observations
Keywords: متیل مالون اسیدوریا; cblC; Methylmalonic aciduria; Homocystinuria; MMACHC; Genotype; Phenotype; Vitamin B12; Cobalamin
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; Cobalamin; Adenosylcobalamin; Adenosyltransferase; Circular dichroism; Enzyme kinetics; Mutation; Complementation group; Immunofluorescence; Mitochondria
Prenatal and postnatal treatment in cobalamin C defect
Keywords: متیل مالون اسیدوریا; Cbl; Cobalamin; Hcy; Homocysteine; OH-Cbl; Hydroxycobalamin; OLCFA; Odd long-chain fatty acids; MMA; Methylmalonic acid; MMA-emia; Methylmalonic academia; MMA-uria; Methylmalonic aciduria; tHcy; Total homocysteine;
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants
Keywords: متیل مالون اسیدوریا; Methylmalonic aciduria; MMA; Mutations; Cobalamin; cblA; cblB; MethylmalonylCoA mutase; MCM;