Keywords: آلفا گالاکتوزیداز A; ISMMS; Icahn School of Medicine at Mount Sinai; Parkinson's disease; Fabry disease; Lysosomal storage disorder; Alpha-galactosidase A; GLA;
مقالات ISI آلفا گالاکتوزیداز A (ترجمه نشده)
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Keywords: آلفا گالاکتوزیداز A; Cell-penetrating peptide; Histidine; Liposome; Drug delivery system; Lysosome; CPPs; cell-penetrating peptides; DDSs; drug delivery systems; GLA; alpha-galactosidase A; LSDs; lysosomal storage diseases; MEM; minimal essential medium; FBS; fetal bovine ser
Keywords: آلفا گالاکتوزیداز A; Left ventricular hypertrophy; Gender difference; Alpha-galactosidase A; X-linked heredity;
Keywords: آلفا گالاکتوزیداز A; Fabry disease; Meningioma; Globotriaosylceramide; Alpha-galactosidase A; Lysosomal storage disease; Cancer;
Keywords: آلفا گالاکتوزیداز A; Maladie de Fabry; Sphingolipidoses; Alpha-galactosidase A; Angiokératomes; Manifestations cliniques; Fabry disease; Sphingolipidosis; Alpha-galactosidase A; Angiokeratoma; Clinical signs;
Keywords: آلفا گالاکتوزیداز A; 4-MU; 4-methylumbelliferone; AGA; alpha-galactosidase A; ACh; acetylcholine; B2M; beta-2-microglobulin; CTNF; ciliary neurotrophic factor; FACS; fluorescence activated cells sorting; HEX; hexosaminidase; HRP; horseradish peroxidase; Gb3; globotriaosylcera
Keywords: آلفا گالاکتوزیداز A; α-Gal A; alpha-galactosidase A; CKD EPI; Chronic Kidney Disease Epidemiology Collaboration; eGFR; estimated glomerular filtration rate; ERT; enzyme replacement therapy; FOS; Fabry Outcome Survey; LVH; left ventricular hypertrophy; LVMI; left ventricular
Keywords: آلفا گالاکتوزیداز A; Gb3; globotriaosylceramide; lyso-Gb3; globotriaosylsphingosine; α-GAL; alpha-galactosidase A; LVH; left ventricular hypertrophy; ERT; enzyme replacement therapy; CFDI; Canadian Fabry Disease Initiative; REB; Research Ethics Board; CHUS; Centre hospitalie
Keywords: آلفا گالاکتوزیداز A; DBS; Dried blood spots collected on filter paper; MPS I; Mucopolysaccharidosis type I; MPS VI; Mucopolysaccharosis type VI; LSDs; Lysosomal storage disorders; LC/MS/MS; Liquid chromatography combined with tandem mass spectrometry; GAL; Alpha-galactosidase
Keywords: آلفا گالاکتوزیداز A; Fabry disease; Alpha-galactosidase A; De novo mutation; Novel mutation; W340S; Genetic counseling
Keywords: آلفا گالاکتوزیداز A; α-Gal A; alpha-galactosidase A; CKD; chronic kidney disease; CRF; chronic renal failure; DBS; dried blood samples; DNA; deoxyribonucleic acid; DP; dialysis patients; EDTA; ethylenediaminetetraacetic acid; FD; Fabry disease; Gb3; globotriaosylceramide; GF
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ
Keywords: آلفا گالاکتوزیداز A; α-Gal A; alpha-galactosidase A; FD; Fabry disease; DGJ; 1-deoxygalactonojirimycin; VUS; variants of unknown significance; 1-Deoxygalactonojirimycin; DGJ; De novo mutation; Atypical variants; Lipofectamine; Site-directed mutagenesis;
The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein
Keywords: آلفا گالاکتوزیداز A; 4-MUG; 4-methylumbelliferone α-d-galactopyranoside; GalNAc; N-acetyl-d-galactosamine; α-Gal A; alpha-Galactosidase A; α-syn; alpha-synuclein; ALP; autophagy-lysosome pathway; Cat B; cathepsin B; Cat D; cathepsin D; Gb3; globotriaosylceramide; lyso-Gb3;
Molecular and clinical studies in five index cases with novel mutations in the GLA gene
Keywords: آلفا گالاکتوزیداز A; FD, Fabry disease; α-GAL A, α-galactosidase A; GB3, globotriaosylceramide; Lyso-GB3, globotriaosylsphingosine; GLA, GLA gene; ND, not determined; DGJ, 1-deoxygalactonojirimycin; ISE, intron splicing enhancerFabry disease; Alpha-galactosidase A; c.846_847d
Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance
Keywords: آلفا گالاکتوزیداز A; FD; Fabry disease; LVH; left ventricular hypertrophy; HCM; hypertrophic cardiomyopathy; AGAL-A; alpha-galactosidase A; GLA; alpha-galactosidase A gene; MWT; maximal wall thickness; GVUS; genetic variant of unknown significance; ERT; enzyme replacement the
Comparación de los pacientes de un registro español de enfermedad de Fabry en dos periodos de tiempo
Keywords: آلفا گالاکتوزیداز A; Enfermedad de Fabry; Enfermedades por depósito lisosómico; Alfa-galactosidasa A; Estudio familiar; Fabry Outcome Survey; EspañaFabry disease; Lysosomal storage diseases; Alpha-galactosidase A; Pedigree; Fabry Outcome Survey; Spain
Novel alpha-galactosidase A mutation in a female with recurrent strokes
Keywords: آلفا گالاکتوزیداز A; AFD; Anderson-Fabry disease; GL-3; globotriaosylceramide; cDNA; complementary DNA; 3â² UTR; three prime untranslated region; pAS; polyadenylation signal; CT; computed tomography; magnetic resonance imaging; MRI; DBFP; Dried Blood Filter Paper; K,EDTA;
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma
Keywords: آلفا گالاکتوزیداز A; DBS, dried blood spots on filter paper; FD, Fabry disease; GLA, alpha-galactosidase A; ROC, receiver operating characteristicFabry disease; Alpha-galactosidase A; Enzyme activity; Inborn errors of metabolism
Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man
Keywords: آلفا گالاکتوزیداز A; Fabry disease; Missense mutation; Nonsense mutation; Alpha-galactosidase A
Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease
Keywords: آلفا گالاکتوزیداز A; Parkinson's disease; Lysosome; Alpha-galactosidase A; Single-nucleotide polymorphisms
Maladie de Fabry : une maladie du métabolisme par déficit d’une enzyme lysosomale (alpha-galactosidase), de transmission héréditaire liée au chromosome X accessible au traitement enzymatique de substitution
Keywords: آلفا گالاکتوزیداز A; Maladie de Fabry; Enzyme recombinante humaine; Maladie lysosomale; Alpha-galactosidase AFabry disease; Human recombinant enzyme; Lysosomal disease; Alpha-galactosidase A
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
Keywords: آلفا گالاکتوزیداز A; Fabry disease; Heterozygote; Alpha-galactosidase A; Enzyme replacement; Chronic kidney disease; Proteinuria; Cardiomyopathy; Stroke; Quality of life; SF-36