Keywords: اسیدمیوم متالمالونیک; Methylcitrate; Dried urine spot; Liquid chromatography tandem mass spectrometry; Propionic acidemia; Methylmalonic acidemia;
مقالات ISI اسیدمیوم متالمالونیک (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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.
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: اسیدمیوم متالمالونیک; MMA; Methylmalonic acidemia; PA; Propionic acidemia; αFP; alpha-fetoprotein; ID; intellectual disability; IQ; intelligence quotient; GH; growth hormone; GGT; gamma-glutamyltranspeptidase; GFR; glomerular filtration rate; MRI; magnetic resonance imaging;
Keywords: اسیدمیوم متالمالونیک; Cochlear implant; Epilepsy; Sensorineural hearing loss; Deafness; Cerebral palsy; Methylmalonic acidemia
Keywords: اسیدمیوم متالمالونیک; LKT; Liver-kidney transplantation; MMA; Methylmalonic acidemia; MUT; Methylmalonyl-CoA mutase;
Keywords: اسیدمیوم متالمالونیک; MMAs; Methylmalonic acidurias; SCS; succinyl-CoA synthetase; C3-C; propionyl-carnitine; C4DC-C; C4-dicarboxylyl-carnitine; C3-C/C2-C; propionyl-carnitine/acetyl-carnitine ratio; C3-C/C16-C; propionyl-carnitine/palmitoyl-carnitine ratio; MS/MS; tandem mass
Keywords: اسیدمیوم متالمالونیک; DBSs; dried blood spots; CPT-1; carnitine palmitoyltransferase 1; VLCAD; very-long-chain acyl-CoA dehydrogenase; LCHAD; long-chain 3-hydroxyacyl-CoA dehydrogenase; MCAD; medium-chain acyl-CoA dehydrogenase; PA; propionic acidemia; MMA; methylmalonic acide
Keywords: اسیدمیوم متالمالونیک; HTx; hepatocyte transplant; OLT; orthotopic liver transplantation; CYP; cytochrome P450; DLT; domino liver transplantation; OD; organ donor; MD; metabolic and diseased livers; MMA; methylmalonic acidemia; PHO; primary hyperoxaluria; MSUD; Maple Syrup Urin
Keywords: اسیدمیوم متالمالونیک; 1H NMR; proton nuclear magnetic resonance; ADMA; asymmetric dimethylarginine; ADP; adenosine diphosphate; AGA; appropriate for gestational age; AKD; acute kidney disease; AKI; acute kidney injury; AMP; adenosine monophosphate; BALF; bronchoalveolar lavage
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acid; Methylmalonic acidemia; LC-MS/MS; Supported-liquid extraction; Inborn errors of metabolism
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Whole-exome sequencing; De novo mutation; CDKL5; Early-onset epileptic encephalopathy;
Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Human methylmalonyl-CoA mutasa; Human MMAA; Metallochaperone; Enzyme reactivation; Enzyme protection;
Aminoguanidine alleviated MMA-induced impairment of cognitive ability in rats by downregulating oxidative stress and inflammatory reaction
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Aminoguanidine; Oxidative stress; Inflammation;
Towards single cell ad hoc protocols: First report of a healthy birth after preimplantation genetic diagnosis for methylmalonic acidemia
Keywords: اسیدمیوم متالمالونیک; Preimplantation genetic diagnosis; Methylmalonic acidemia; Organic aciduria; Monogenic disease; Diagnóstico genético preimplantación; Acidemia metilmalónica; Aciduria orgánica; Enfermedad monogénica;
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11
Keywords: اسیدمیوم متالمالونیک; MicroRNA-9; BCL2L11; Apoptosis; Methylmalonic acidemia
Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
Keywords: اسیدمیوم متالمالونیک; 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;
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Homocystinuria; Cobalamin C; Neurodevelopment; Newborn screening; MMACHC;
Acute renal failure potentiates brain energy dysfunction elicited by methylmalonic acid
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Methylmalonate; Energy metabolism; Brain; Kidney failure
Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Microarray sequencing; Mutation; MUT;
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein
Keywords: اسیدمیوم متالمالونیک; Methylmalonyl-CoA mutase; Reactivation; Human MMAA; Enzyme inactivation; Methylmalonic acidemia;
Epilepsy in children with methylmalonic acidemia: Electroclinical features and prognosis
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Epilepsy; Treatment; Prognosis
An Ethical and Policy Analysis of Elective Transplantation for Metabolic Conditions Diagnosed by Newborn Screening
Keywords: اسیدمیوم متالمالونیک; CoA; Coenzyme A; DDLT; Deceased donor liver transplant; DPR; Doctor-patient relationship; LDLT; Living donor liver transplantation; LT; Liver transplantation; MELD; Model for End-stage Liver Disease; MESSAGE; MELD Exceptional Case Study Group; MMA; Methyl
Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia
Keywords: اسیدمیوم متالمالونیک; Scanning electron microscopy; Focused ion beam; Ion-abrasion; Mitochondria; Methylmalonic acidemia; Diagnostic imaging
Metabolic and Hemodynamic Advantages of an Acetate-Free Citrate Dialysate in a Uremic Case of Congenital Methylmalonic Acidemia
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; acetate dialysate; citrate dialysate;
Organic Acidemias: A Methylmalonic and Propionic Focus
Keywords: اسیدمیوم متالمالونیک; Inborn errors of metabolism; Methylmalonic acidemia; Propionic acidemia; Genetics; Pediatrics
Convulsions induced by methylmalonic acid are associated with glutamic acid decarboxylase inhibition in rats: A role for GABA in the seizures presented by methylmalonic acidemic patients?
Keywords: اسیدمیوم متالمالونیک; NMDA receptors; GAD; methylmalonic acidemia; convulsionGABA-T, GABA transaminase; GAD, glutamic acid decarboxylase; MMA, methylmalonic acid; NMDA, N-methyl-d-aspartate; PKC, protein kinase C
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acid; Methylmalonic acidemia; Methylmalonic acidopathy; Methylmalonyl-CoA mutase deficiency; Liver transplantation; Metabolic stroke;
Creatine prevents behavioral alterations caused by methylmalonic acid administration into the hippocampus of rats in the open field task
Keywords: اسیدمیوم متالمالونیک; MMA; methylmalonic acid; MMAemia; methylmalonic acidemia; NMDA; N-methyl-d-aspartate; MK-801; dizocilpine maleate; ANOVA; analysis of variance; S.E.M.; standard error of the mean; SPSS; Statistical Package of the Social Sciences; NaCl; sodium chloride; Me
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12
Keywords: اسیدمیوم متالمالونیک; Cobalamin; cblC disorder; Subacute combined degeneration; Peripheral neuropathy; Neuropathology; Myelopathy; Demyelination; Methionine; Remethylation; Inborn errors of metabolism; Methylmalonic acid; Homocysteine; Homocystinuria; Methylmalonic acidemia;
Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acid; Methylmalonic acidemia; Respiratory chain
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism
Keywords: اسیدمیوم متالمالونیک; Propionate metabolism; Methylmalonic acidemia; Methylmalonyl-CoA epimerase; Methylmalonyl-CoA mutase; Cobalamin; C. elegans; Methylmalonyl-CoA racemase; Mass spectrometry; RNA interference; Bioinformatics
Mutation analysis of the MCM gene in Korean patients with MMA
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Methylmalonyl-CoA mutase; Mutation; Korean;
Involvement of NO in the convulsive behavior and oxidative damage induced by the intrastriatal injection of methylmalonate
Keywords: اسیدمیوم متالمالونیک; Convulsion; Protein carbonylation; l-methylmalonic acid; Nitric oxide; Methylmalonic acidemia; l-NAME;
Genetic and genomic systems to study methylmalonic acidemia
Keywords: اسیدمیوم متالمالونیک; Methylmalonic acidemia; Cobalamin deficiency; Methylmalonyl-CoA mutase; MMAA; MMAB; Caenorhabditis elegans; Mouse models; Molecular genetics; Genomics;