Keywords: اسید α-گلوکوزیداز; Late-onset Pompe disease; cerebral stroke; acid α-glucosidase; enzyme replacement therapy;
مقالات ISI اسید α-گلوکوزیداز (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: اسید α-گلوکوزیداز; formulation; pharmacokinetics; liposomes; proteins; pharmacodynamics; rhGAA; recombinant human acid α-glucosidase; PI; phosphatidylinositol; FVIII; factor VIII; GAA; acid α-glucosidase; 4-MUG; 4-methylumbelliferyl-α-d-glucopyranoside; PI-rhGAA; PI lipo
Keywords: اسید α-گلوکوزیداز; LSD; lysosomal storage disorder; DBS; dried blood spot; GAA; acid α-glucosidase; GLA; acid α-galactosidase; GBA; acid β-glucocerebrosidase; ASM; acid sphingomyelinase; GALC; galactocerebrosidase; EDTA; ethylenediaminetetraacetic acid; S&S; Schleicher &
Keywords: اسید α-گلوکوزیداز; BMI; Body mass index; DHEA; Dehydroepiandrosterone; ERT; Enzyme replacement therapy; GAA; Acid α-glucosidase; IPD; Infantile PD; PCOS; Polycystic ovary syndrome; PD; Pompe disease;
Keywords: اسید α-گلوکوزیداز; DBS; Dried blood spot; GAA; Acid α-glucosidase; GBA; Acid β-d-glucosidase; GLA; Acid α-galactosidase; IDUA; Acid α-l-iduronidase; LSD; Lysosomal storage disorder; MPS I; Mucopolysaccharidosis type I; MSPHL; Missouri State Public Health Laboratory; NBS
Keywords: اسید α-گلوکوزیداز; CK; Creatinine kinase; CRIM; Cross-reactive immunologic material; ERT; Enzyme-replacement therapy; GAA; Acid α-glucosidase; IOPD; Infantile-onset Pompe disease; LVMI; Left ventricular mass index; MRI; Magnetic resonance imaging; NBS; Newborn screening; P
Keywords: اسید α-گلوکوزیداز; Pompe disease; Glycogen storage disease type 2; Acid maltase deficiency; Acid α-glucosidase; Lysosomal storage disorders; Pain;
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
Keywords: اسید α-گلوکوزیداز; Lysosomal disease; Pompe disease; Acid α-glucosidase; Genotype-phenotype correlation;
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13TÂ >Â G “late-onset” GAA variant
Keywords: اسید α-گلوکوزیداز; NBS; Newborn screening; IOPD; Infantile onset Pompe disease; LOPD; Late onset Pompe disease; GAA; Acid α-glucosidase; ERT; Enzyme replacement therapy; RUSP; Recommended uniform screening panel; CK; Creatine kinase; Glc4; Urinary glucose tetrasaccharide;
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
Keywords: اسید α-گلوکوزیداز; DBS; Dried blood spot on a newborn screening card; GAA; Acid α-glucosidase; GALC; Galactocerebrosidase; GBA; Glucocerebrosidase; GLA; α-Galactosidase A; IDUA; α-Iduronidase; MPS-I; Mucopolysaccharidosis-I; MS/MS; Tandem mass spectrometry; MRM; Multiple
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
Keywords: اسید α-گلوکوزیداز; AST; Aspartate aminotransferase; Bayley-III; Bayley Scale of Infant and Toddler Development, Third Edition; CK; Creatine kinase; CRIM; Cross-reactive immunologic; ERT; Enzyme-replacement therapy; GAA; Acid α-glucosidase; IOPD; Infantile-onset Pompe disea
BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease
Keywords: اسید α-گلوکوزیداز; ADA; Anti-drug antibody; BAFF; B-cell activating factor; ERT; Enzyme replacement therapy; FO; Follicular B-cell; GAA; Acid α-glucosidase; MZ; Marginal zone B-cell; rhGAA; Recombinant human GAA; TR; Transitional B-cell; Acid alpha-glucosidase; BAFF; BLyS;
Innovative approach in Pompe disease therapy: Induction of immune tolerance by antigen-encapsulated red blood cells
Keywords: اسید α-گلوکوزیداز; 4MU; 4-methylumbelliferyl α-D-glucopyranoside; Ab; antibody; AGA; alglucosidase-α; Ad; administration; APC; antigen-presenting cells; BS3; [bis(sulphosuccinimidyl)]suberate; BS3RBC-AGA; BS3-treated RBC-AGA; CT; cholera toxin; DC; dendritic cell; ERT; en
Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease
Keywords: اسید α-گلوکوزیداز; A; adult; AET; aerobic exercise training; AUC; area under the curve; CI-MPR; cation-independent mannose-6-phosphate receptor; CLEAR; coordinated lysosomal expression and regulation transcriptome; ERT; enzyme replacement therapy; FA; fatty acid; FG; fast-t
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease
Keywords: اسید α-گلوکوزیداز; GAA; acid α-glucosidase; HRM; high resolution melting; DBS; dried blood spot; PCR; polymerase chain reaction; WCN; weighted contact number; DHPLC; denaturing high performance liquid chromatography; Acid α-glucosidase (GAA) gene; High resolution melting;
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform
Keywords: اسید α-گلوکوزیداز; LSDs; lysosomal storage diseases; DBS; dried blood spot; NBS; newborn screening; GAA; acid α-glucosidase; GLA; acid α-galactosidase; IDS; acid α-l-iduronate-2-sulfatase; GBA; acid β-d-glucosidase; IDU; acid α-l-iduronidase; ALL; advanced liquid logic
The Rasch-built Pompe-specific Activity (R-PAct) scale
Keywords: اسید α-گلوکوزیداز; Pompe disease; Acid α-glucosidase; Patient reported outcome measures; Disability measure; Rasch analysis;
Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature
Keywords: اسید α-گلوکوزیداز; cm; Centimeters; CNS; Central nervous system; EM; Electron microscopy; FDA; Food and drug administration; FEV1; Forced expiratory volume in one second; FVC; Forced vital capacity; g; Grams; GAA; Acid α-glucosidase; HRLM; High resolution light microscopy;
The impact of antibodies in late-onset Pompe disease: A case series and literature review
Keywords: اسید α-گلوکوزیداز; Lysosomal storage disorder; Pompe disease; Acid α-glucosidase; Alglucosidase alfa; Antibody; Enzyme replacement therapy;
Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease
Keywords: اسید α-گلوکوزیداز; GAA; acid α-glucosidase; rhGAA; recombinant human alglucosidase alfa; ERT; enzyme replacement therapy; GSDII; glycogen storage disease type II; CI-MPR; cation-independent mannose-6-phosphate receptor; PGC-1α; peroxisome proliferator-activated receptor g
Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy
Keywords: اسید α-گلوکوزیداز; GAA; acid α-glucosidase; ERT; enzyme replacement therapy; 6MWT; 6-min shuttle walk test; LBM; lean body mass; BMD; bone mineral density; DXA; dual X-ray absorbtiometry; Pompe disease; Aerobic training; Resistance exercise;
Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells
Keywords: اسید α-گلوکوزیداز; GAA; Acid α-glucosidase; ERT; Enzyme replacement therapy; iPS; Induced pluripotent stem; Wt-iPS; Wild type-iPS; EB; Embryoid body; Pompe disease; Acid α-glucosidase; Induced pluripotent stem (iPS); Skeletal muscle; Reprogramming factor;
Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening
Keywords: اسید α-گلوکوزیداز; CK; Creatine kinase; ERT; Enzyme replacement therapy; GMQ; Gross motor quotient; GAA; Acid α-glucosidase; NBS; Newborn screening; PDMS-II; Peabody Developmental Motor Scale, Second Edition;
Mannose 6-phosphate receptor homology (MRH) domain-containing lectins in the secretory pathway
Keywords: اسید α-گلوکوزیداز; MRH; mannose 6-phosphate receptor homology; MPR; mannose 6-phosphate receptor; CD-MPR; cation-dependent MPR; CI-MPR; cation-independent MPR; Man-6-P; mannose 6-phosphate; ER; endoplasmic reticulum; ML-II; mucolipidosis II; LERP; lysosomal enzyme receptor
Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients
Keywords: اسید α-گلوکوزیداز; Lysosomal storage diseases; Glycogenosis II; Glycogen accumulation; Acid α-glucosidase; Gastrointestinal manifestations; Pompe disease; Acid maltase deficiency;
Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid α-glucosidase (alglucosidase alfa): Insight into the complex formation mechanism
Keywords: اسید α-گلوکوزیداز; CHO cells; Chinese hamster ovary cells; ERT; enzyme replacement therapy; EET; enzyme enhancement therapy; DNJ; 1-deoxynojirimycin; NB-DNJ; N-butyl-deoxynojirimycin; NM-DNJ; N-methyl-deoxynojirimycin; NE-DNJ; N-ethyl-deoxynojirimycin; Km; Michaelis constan
Correlation of acid α-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease
Keywords: اسید α-گلوکوزیداز; GAA; acid α-glucosidase; GFM; glucose free media; Lysosomal storage disorder; Immune-quantification; Immune-capture; α-glucosidase; Glycogen; Prognosis;
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease
Keywords: اسید α-گلوکوزیداز; Glycogen storage disease type II; GSD-II; Pompe disease; Lysosome storage disease; Glc4; Oligosaccharide; HPLC; LC-MS/MS; Enzyme replacement therapy; Acid α-glucosidase;