Keywords: گالاکتوزمی; Galactosemia; Fructose intolerance; Tyrosinemia; Nitisinone; Liver; Liver disease; Inborn errors of metabolism; Hepatopathy;
مقالات ISI گالاکتوزمی (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: گالاکتوزمی; ALT; alanine transaminase; AMH; anti-Müllerian hormone; AST; aspartate transaminase; ATP; adenosine triphosphate; DG; Duarte galactosemia; FSH; follicle-stimulating hormone; Gal-1-P; galactose-1-phosphate; GALE; UDP-galactose 4-epimerase; GALK; galactoki
Insight into the mechanism of galactokinase: Role of a critical glutamate residue and helix/coil transitions
Keywords: گالاکتوزمی; Active site; Molecular dynamics; Protein flexibility; Biocatalysis; Galactosemia; GALK1;
Keywords: گالاکتوزمی; Galactosemia; Phosphate trapping; Galactose-1-phosphate; Saccharomyces cerevisiae; Lithium; Unfolded protein response;
Keywords: گالاکتوزمی; Galactosemia; Diet therapy; Management; Dietary carbohydrates; Medical nutrition therapy;
Keywords: گالاکتوزمی; Galactosemia; Structure–activity relationships; Galactokinase
Keywords: گالاکتوزمی; galaktozemia; zaÄma; reduktaza aldozowa; galaktitol; galaktoza; aktywnoÅÄ laktazy; Galactosemia; Cataract; Aldose reductase; Galactitol; Galactose; Lactase activity;
Galactose metabolism and toxicity in Ustilago maydis
Keywords: گالاکتوزمی; Galactose metabolism; Galactosemia; Galactose toxicity; Ustilago maydis;
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
Keywords: گالاکتوزمی; Galactosemia; Inborn error of galactose metabolism; Splicing mutation; HRM; In silico study; Ecuadorian GALT mutation;
Development of a new bioaffinity stationary phase for lactose removal using a lactose-binding lectin immobilized onto polyaniline
Keywords: گالاکتوزمی; Lactose intolerance; Galactosemia; Lactose removal; Lactose-free food; Bioaffinity chromatography;
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts
Keywords: گالاکتوزمی; Galactose-1 phosphate uridylyltransferase (GalT); Endoplasmic reticulum (ER) stress; Protein kinase B (Akt); 3-Phosphoinositide-dependent kinase-1 (Pdk1); Heat shock protein 90 (Hsp90); Galactosemia;
Enfermedades por almacenamiento de glucógeno y otros trastornos hereditarios del metabolismo de los hidratos de carbono
Keywords: گالاکتوزمی; Glucogenosis; Intolerancia al ejercicio; Metabolismo de la fructosa; Galactosemia; Glycogenosis; Exercise intolerance; Metabolism of fructose; Galactosemia;
Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease
Keywords: گالاکتوزمی; Galactosemia; Pathogenesis; Diagnosis
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia
Keywords: گالاکتوزمی; CG; classic galactosemia; GALT; galactose 1-phosphate uridylyltransferase; NBS; newborn screening; qRT-PCR; quantitative reverse transcription polymerase chain reaction; Gal-1P; galactose-1-phosphate; GALE; UDP-galactose 4'-epimerase; GALK; galactokinase;
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings
Keywords: گالاکتوزمی; BRLMM; Bayesian Robust Linear Model with Mahalanobis distance classifier; C; cytosine; DNA; desoxyribonucleic acid; GALK1; galactokinase; GALT; galactose-1-phosphate uridyltransferase; GALE; UDP-galactose-4â²-epimerase; Mb; megabase; Ng; nanogram; OMIM;
An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency
Keywords: گالاکتوزمی; Galactosemia; Epimerase enzyme assay; UPLC-tandem mass spectrometry;
Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots
Keywords: گالاکتوزمی; DBS; dried blood spots; GALT; galactose-1-phosphate uridyl transferase; PCR; polymerase chain reaction; SNE; single nucleotide extension; Galactosemia; Dried blood spot; Common mutation; IVS2-2; Single nucleotide extension; Newborn;
Development of an amperometric screen-printed galactose biosensor for serum analysis
Keywords: گالاکتوزمی; Galactose; Galactosemia; Galactose oxidase; Hydrogen peroxide; Cellulose acetate; Amperometry
Static and dynamic interactions between GALK enzyme and known inhibitors: Guidelines to design new drugs for galactosemic patients
Keywords: گالاکتوزمی; Galactosemia; Docking; Molecular dynamics simulations; Pharmacophore; Drug discovery; Rare diseaseGALT, galactose-1-phosphate uridyltransferase; gal-1-P, galactose-1-phosphate; GALK, galactokinase; glu-1-P, glucose-1-phosphate; MD, molecular dynamics; RMS
Detection of common mutations in the GALT gene through ARMS
Keywords: گالاکتوزمی; GALT gene; Galactose-1-phosphate Uridyltranseferase gene; ARMS; Amplification refractory mutation system; DNA; Deoxyribonucleic acid; PCR; Polymerase chain reaction; bp; base pairs; “G” allele; Galactosemia allele; “D1” allele; Los Angeles allele;
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: گالاکتوزمی; Galactosemia; Homocystinuria; Newborn screening; Simultaneous diagnosis; Galactose; Methionine;
Galactosemia: When is it a newborn screening emergency?
Keywords: گالاکتوزمی; Galactosemia; Newborn screening; Galactose-1-phosphate; GALT genotype; ACT sheet
Trastornos hereditarios del metabolismo de la galactosa y la fructosa
Keywords: گالاکتوزمی; Errores innatos del metabolismo; Metabolismo de los hidratos de carbono; Galactosemia; Metabolismo de la fructosa; Intolerabilidad hereditaria a la fructosa; Déficit de fructosa-1,6-difosfatasa;
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations
Keywords: گالاکتوزمی; Galactosemia; Galactose-1-phosphate uridyltransferase; GALT gene; Structural modeling;
Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening
Keywords: گالاکتوزمی; Cataract; Galactose; Galactose-1-phosphate; Dietary treatment; Galactokinase; Galactosemia
Ovarian function in Duarte galactosemia
Keywords: گالاکتوزمی; POI; galactosemia; Duarte; DG; ovarian function; AMH; MIS; FSH;
The role of the active site residues in human galactokinase: Implications for the mechanisms of GHMP kinases
Keywords: گالاکتوزمی; Active site base; Protein stability; GHMP kinase; Galactosemia; Galactokinase; Enzyme mechanism
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency
Keywords: گالاکتوزمی; Galactose-1-phosphate uridyltransferase; Galactosemia; Mutation
Simultaneous diagnostic method for phenylketonuria and galactosemia from dried blood spots using high-performance liquid chromatography-pulsed amperometric detection
Keywords: گالاکتوزمی; IMD, inherited metabolic disease; PKU, phenylketonuria; GALT, galactose 1-phosphate uridyltransferase; PAD, pulsed amperometric detection; ECM, enzymatic colorimetric methodNewborn screening; Simultaneous diagnosis; Phenylketonuria; Galactosemia; HPLC; Dr
Les intolérances héréditaires aux disaccharides ou aux oses simples
Keywords: گالاکتوزمی; Maladies héréditaires du métabolisme; intolérances aux sucres; fructosémie; galactosémie; diagnostic génétique; Hereditary metabolic diseases; sugar intolerances; fructosemia; galactosemia; genetic diagnosis;
GALT Protein Database, a Bioinformatics Resource for the Management and Analysis of Structural Features of a Galactosemia-related Protein and Its Mutants
Keywords: گالاکتوزمی; database; mutation; homology modeling; galactosemia; GALT enzyme
Biomarkers of ovarian function in girls and women with classic galactosemia
Keywords: گالاکتوزمی; Galactosemia; ovarian insufficiency; AMH; FSH; FSH bioactivity
A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis
Keywords: گالاکتوزمی; Sugar phosphate; Galactosemia; HPLC; PAD; Blood; Sodium carbonate; Biomarker
Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation
Keywords: گالاکتوزمی; Cataract; Lactose; Lactose intolerance; Lactase; Galactose; Galactosemia; Genotype; Milk; Yoghurt
Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening
Keywords: گالاکتوزمی; Duarte; Galactosemia; Newborn screening; Development
Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4′-epimerase (GALE)
Keywords: گالاکتوزمی; Galactose; Galactosemia; Yeast; Gal-1P; GALT; GALE; GALK
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: Myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
Keywords: گالاکتوزمی; Myo-inositol; Phosphatidylinositol; Slc5a3 or Smit1; Mprs6; Knockout; MALDI-TOF MS; Central apnea; Development; Lithium; Galactosemia
Evidence for function of UDP galactose pyrophosphorylase in mice with absent galactose-1-phosphate uridyltransferase
Keywords: گالاکتوزمی; Galactose; Galactosemia; UDP glucose; Nuclear magnetic resonance; UDP galactose pyrophosphorylase
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency
Keywords: گالاکتوزمی; Galactosemia; Galactokinase deficiency; Mutation; Korean; Expression study
Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection
Keywords: گالاکتوزمی; High-performance anion-exchange chromatography; Pulsed amperometric detection; Galactose; Galactosemia; Blood spot
Metabolic fate of administered [13C]galactose in tissues of galactose-1-phosphate uridyl transferase deficient mice determined by nuclear magnetic resonance
Keywords: گالاکتوزمی; Galactose; Galactosemia; Galactose metabolites; Nuclear magnetic resonance; 13C; Mice
Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model
Keywords: گالاکتوزمی; Galactosemia; Galactose-1-phosphate; Inositol monophosphatase; Endoplasmic reticulum stress; Unfolded protein response; GRP78
Effect of calcium, vitamins K1 and D3 on bone in galactosemia
Keywords: گالاکتوزمی; Galactosemia; Bone mineral content (BMC); Calcium; Vitamin K1; Vitamin D3
The endocrine system in treated patients with classical galactosemia
Keywords: گالاکتوزمی; Galactosemia; Endocrine; Glycosylation; IGF-1; IGFBP-3; FSH
To Screen or Not to Screen: Complexities of Newborn Screening in the 21st Century
Keywords: گالاکتوزمی; Newborn screening; phenylketonuria (PKU); congenital hypothyroidism; galactosemia; sickle cell disease; congenital adrenal hyperplasia
Pathways of galactose metabolism by galactosemics: Evidence for galactose conversion to hepatic UDPglucose
Keywords: گالاکتوزمی; Galactosemia; Galactose-1-phosphate uridyltransferase; UDPgalactose; UDPglucose; Nuclear magnetic resonance; Acetaminophen
AnomalÃas hereditarias del metabolismo de la galactosa y de la fructosa
Keywords: گالاکتوزمی; Galactosa; Fructosa; Metabolismo; Déficit de galactocinasa; Galactosemia; Déficit de fructocinasa; Intolerancia a la fructosa;
Hémorragie intra-vitréenne du nouveau-né et galactosémie
Keywords: گالاکتوزمی; Galactosémie; hémorragie intra-vitréenne; nouveau-né; vitrectomie; Galactosemia; vitreous hemorrhage; neonate; vitrectomy;
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia
Keywords: گالاکتوزمی; Galactosemia; GALE; UDP-galactose 4â²-epimerase; Yeast; K257R; G319E;
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
Keywords: گالاکتوزمی; Galactose; Galactosemia; GALT deficiency; Endogenous production; Stable isotope dilution; Tolerance;