دانلود مقالات ISI درباره Gaa + ترجمه فارسی

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Grape stems from Sicilian Vitis vinifera cultivars as a source of polyphenol-enriched fractions with enhanced antioxidant activity

Keywords: Grape stems; Polyphenols; Antioxidants; DPPH; GAE; Gaa; Gallic acid; Pcd; Procianidin B1; Cat; Catechin; Que3G; Quercetin 3-O-glucoside; Que3Gr; Quercetin 3-O-glucuronide; Rsv; (E)-Resveratrol; Vin; ε-Viniferin;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Abundant sequence divergence in the native Japanese cattle Mishima-Ushi (Bos taurus) detected using whole-genome sequencing

Keywords: mtDNA; mitochondrial DNA; BACs; bacterial artificial chromosomes; SNPs; single-nucleotide polymorphisms; indels; insertions and deletions; UTRs; untranslated regions; PCR; polymerase chain reaction; nsSNPs; non-synonymous SNPs; GO; gene ontology; QTL; qua

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

Keywords: Ab; Antibody; CRIM; Cross-reactive immunologic material; ERT; Enzyme replacement therapy; GAA; Acid alpha-glucosidase; IV; Intravenous; IVIG; Intravenous immunoglobulin; LVMI; Left ventricular mass index;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2013 سفارش ترجمه

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

Keywords: GAMT-D; Guanidinoacetate methyltransferase deficiency; MRS; Magnetic resonance spectroscopy; MRI; Magnetic resonance imaging; GAA; Guanidinoacetate; BG; Basal ganglia; WM; White matter; NAA; N-acetylaspartic acid; CDS; Creatine deficiency syndromes; BSID-

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

Keywords: Pompe disease; GAA; Globular inclusion; Acid phosphatase;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

Keywords: DBS; dried blood spot; GAA; acid alpha-glucosidase; MGA; maltase glucoamylase; NAG; neutral alpha-glucosidase; tGAA; total GAA; GLA; alpha-galactosidase A; NBS; newborn screening; Pompe disease; Newborn screening; Alpha-glucosidase; Lysosomal storage dise

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

Keywords: GSD; Glycogen storage disease; GAA; Acid alpha-1,4-glucosidase; BMI; Body mass index; VO2peak; peak oxidative capacity; Wpeak; peak workload; RPE; Ratings of perceived exertion; Ra; Rate of appearance; Rd; Rate of disappearance; ROX; Rate of oxidation; RE

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Keywords: 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;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Keywords: IPA; International Pompe Association; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; LVMI; left ventricular mass index; HHD; hand-held dynamometry; FVC; forced vital capacity; BERA; brainstem‐evoked response audiometry; AIMS; Alberta Infa

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2012 سفارش ترجمه

Analytical procedures for the determination of surfactants in environmental samples

Keywords: AA; Acetic acid; ACN; Acetonitrile; AE/AEO; Alcohol ethoxylates; AES; Alkylethoxysulfates; AMAC; Ammonium acetete; AMF; Ammonium formate; APEO; Alkylphenol ethoxylates; APCI; Atmospheric pressure chemical ionization; AS; Alkylsulfates; ASo; Alkyl sulfonat

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2012 سفارش ترجمه

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients

Keywords: Pompe disease; Lysosomal storage disease; Enzyme replacement therapy; Acid alpha glucosidase; GAA; Expression profiling;

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2012 سفارش ترجمه

Ethnopharmacological communicationAntibacterial and anti-inflammatory effects of extracts and fractions from Polygonum capitatum

Keywords: UTI; urinary tract infection; CC; column chromatography; MHB; Mueller Hinton Broth; MIC; minimum inhibitory concentration; MBC; minimal bactericidal concentration; AE; aqueous extract; 70EE; 70% aqueous ethanol extract; GAA; gallic acid and its analogues-

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Genetic polymorphism of XRCC3 codon 241 and Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi Population, China: A hospital-based case-control study

Keywords: GAA; gastric antrum adenocarcinoma; H. pylori; Helicobacter pylori; DSBR; double-strand break repair; OR; odds ratio; PCR; polymerase chain reaction; XRCC3; X-ray repair cross-complementing group 3; XRCC3-MM; the homozygotes of XRCC3 codon 241 Met alleles

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy

Keywords: 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;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

Keywords: 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;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

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: 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;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Mannose 6-phosphate receptor homology (MRH) domain-containing lectins in the secretory pathway

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2011 سفارش ترجمه

ReviewFriedreich's ataxia: Past, present and future

Keywords: Friedreich's ataxia; Frataxin; GAA; Iron; Fe-S cluster; Oxidative stress;

دانلود رایگان متن کامل مقاله ISI 20 صفحه سال انتشار : 2011 سفارش ترجمه

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

Keywords: Pompe disease; Late onset; GAA; ERT; PVOD;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Physiological role of autophagy as an intracellular recycling system: With an emphasis on nutrient metabolism

Keywords: AMP; adenosine monophosphate; AMPK; AMP-activated protein kinase; Atg; autophagy-related; ATP; adenosine triphosphate; Bak; Bcl-2 homologous antagonist/killer; Bax; Bcl-2 associated X protein; Bcl-2; B-cell leukemia/lymphoma 2; Cvt; cytoplasm-to-vacuole t

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Na+/Cl−/creatine transporter activity and expression in rat brain synaptosomes

Keywords: creatine transport; CRT; brain; AGAT; arginine: glycine amidinotransferase; CRT; Na+/Cl−/creatine transporter; GAA; guanidinoacetic acid; GAMT; guanidinoacetate-methyltransferase; GPA; guanidinopropionic acid;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Keywords: Pompe disease; Glycogen storage disease; Enzyme replacement therapy; Lysosomal storage disease; Acid alpha glucosidase; GAA; Cross-reactive immunologic material; CRIM; Antibody

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease

Keywords: BNP; B-type natriuretic peptide; ECG; Electrocardiogram; ERT; Enzyme replacement therapy; GAA; Acid-α glucosidase; LV; Left ventricular; LVEF; Left ventricular ejection fraction; LVMI; Left ventricular mass index; NBS; Newborn screening; QTc; Corrected Q

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

The Brazilian Consensus on the Management of Pompe Disease

Keywords: ALT; Alanine aminotransferase; AST; Aspartate aminotransferase; CK; Creatinine kinase; CK-MB; Creatinine kinase MB isoenzyme; CRIM; Cross-reactive immunologic material; EOPD; Early-onset Pompe disease; ERT; Enzyme replacement therapy; FEV1; Forced expirat

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2009 سفارش ترجمه

Modeling the equivalent oxide thickness of Surrounding Gate SOI devices with high-κ insulators

Keywords: MuG; SOI; EOT; High-κ; SGT; GAA

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

Keywords: Pompe disease; Glycogen storage disease type 2; Diagnosis; Lysosomal acid α-glucosidase; GAA; Dried blood spots; Enzyme assay; Acarbose

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2007 سفارش ترجمه

Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation

Keywords: Acid α-glucosidase; GAA; Glycogen storage disease; Haplotype analysis; Lysosomal storage disorder; Molecular analysis; Pompe disease

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2007 سفارش ترجمه

Pompe disease: Current state of treatment modalities and animal models

Keywords: Pompe disease; α-Glucosidase; GAA; KO mouse models; Enzyme replacement therapy; Gene therapy; Gene correction therapy

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2007 سفارش ترجمه

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Keywords: Glycogen storage disease, type II; Pompe disease; Acid maltase deficiency; GAA; Acid α-glucosidase; Mutation

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2007 سفارش ترجمه

Hyaluronidase increases the biodistribution of acid α-1,4 glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy

Keywords: Pompe disease; Acid α-1,4 glucosidase; Acid maltase deficiency; Enzyme replacement therapy; Skeletal muscle; GAA

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه

Two new missense mutations of GAA in late onset glycogen storage disease type II

Keywords: Glycogen storage disease type II; Late onset; GAA; Missense mutation

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Keywords: BiPAP; Bi-level positive airway pressure; CI; Confidence interval; CPAP; Continuous positive airway pressure; CRIM; Cross-reactive immunologic material; EKG; Electrocardiogram; GAA; α-Glucosidase; RR; Risk ratio; SD; Standard deviation;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه

Brain creatine functions to attenuate acute stress responses through GABAnergic system in chicks

Keywords: GABA receptors; behavior; CNS; picrotoxin; CGP54626; BZ; benzodiazepine; CDP; chlordiazepoxide; GAA; guanidinoacetate; HPLC; high-performance liquid chromatography; UV-Vis; ultraviolet-visible;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه

Correlation of acid α-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease

Keywords: GAA; acid α-glucosidase; GFM; glucose free media; Lysosomal storage disorder; Immune-quantification; Immune-capture; α-glucosidase; Glycogen; Prognosis;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2005 سفارش ترجمه