Keywords: نوع دوم ذخیره سازی گلیکوژن; Smart technology; e-Health; Pompe disease; Glycogen storage disease type II;
مقالات ISI نوع دوم ذخیره سازی گلیکوژن (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: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; GAA;
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; Lysosomal storage disease; Acid maltase deficiency; Autophagy;
Keywords: نوع دوم ذخیره سازی گلیکوژن; ALP; Alkaline Phosphatase; ALT; Alanine Aminotransferase; CNS; central nervous system; COD; Cause of Death; GAA; acid alpha glucosidase; GSD II; Glycogen Storage Disease Type II; INR; International Normalized Ratio; IV; Intravenous; LOPD; Late-Onset Pompe
Keywords: نوع دوم ذخیره سازی گلیکوژن; Exercise; Fatigue; Glycogen storage disease type II; Pain; RehabilitationERT, enzyme replacement therapy; FSS, Fatigue Severity Scale; ICF, International Classification of Functioning, Disability and Health; MCS, mental component summary; PCS, physical co
Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening
Keywords: نوع دوم ذخیره سازی گلیکوژن; glycogen storage disease type II; acid-α-glucosidase; arrhythmia; hypertrophic cardiomyopathy; DCM; Dilated cardiomyopathy; ECG; Electrocardiography; Echo; Echocardiography; GAA; Acid α-glucosidase; HCM; Hypertrophic cardiomyopathy; LVH; Left ventricu
Case reportFirst clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Late-onset Pompe disease; c.-32-13T>G mutation; c.2560C>T mutation; c.1551+42G>A mutation; Costa Rican family;
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: نوع دوم ذخیره سازی گلیکوژن; 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;
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo
The emerging phenotype of late-onset Pompe disease: A systematic literature review
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Late-onset Pompe disease; Natural history; Multisystem disease;
Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; 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
Screening for late-onset Pompe disease in Finland
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Late-onset; Screening;
The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs
Keywords: نوع دوم ذخیره سازی گلیکوژن; PD; Pompe disease; GSDII; glycogen storage disease type II; GAA; acid-α-glycosidase; LSD; lysosomal storage disease; ERT; enzyme replacement therapy; iPSC; induced pluripotent stem cell; PAS; Periodic-acid-Schiff; ALP; alkaline phosphates; TEM; transmiss
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: Identification of 6 novel mutations
Keywords: نوع دوم ذخیره سازی گلیکوژن; GAA, acid alpha-glucosidase; PD, Pompe disease; PAS, periodic acid-Schiff; RT-PCR, reverse transcriptase–polymerase chain reaction; SIFT, Sorting Intolerant from TolerantPompe disease; Glycogen storage disease type II; Acid α-glucosidase; Lysosomal storag
Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
Keywords: نوع دوم ذخیره سازی گلیکوژن; acid α-glucosidase; enzyme replacement therapy; glycogen storage disease type II; newborn screening; Pompe disease
Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Cardiac output; Oxidative metabolism; Near-infrared spectroscopy;
Species-specific differences in the processing of acid α-glucosidase are due to the amino acid identity at position 201
Keywords: نوع دوم ذخیره سازی گلیکوژن; GAA, acid α-glucosidase; rhGAA, recombinant human acid α-glucosidase; CHO, Chinese hamster ovary; MSX, methionine sulfoximine; ERT, enzyme replacement therapyAcid α-glucosidase; Glycogen storage disease type II; Pompe disease; Lysosome processing
Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Autophagy; Akt; Insulin;
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Genetic polymorphisms; Enzyme replacement therapy; Volumetric MRI;
β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Mannose-6-phosphate receptor; Enzyme replacement therapy; Acid alpha-glucosidase; Acid maltase; Pompe disease; Glycogen storage disease type II
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; 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
Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
Keywords: نوع دوم ذخیره سازی گلیکوژن; 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; brainstemâevoked response audiometry; AIMS; Alberta Infa
Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; 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
Atypical immunologic response in a patient with CRIM-negative Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Pompe disease; Enzyme replacement therapies; Immunologic response; Antibodies;
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
Keywords: نوع دوم ذخیره سازی گلیکوژن; Mannose-6-phosphate receptor; Enzyme replacement therapy; Acid alpha-glucosidase; Acid maltase; Pompe disease; Glycogen storage disease type II
Pompe disease: Design, methodology, and early findings from the Pompe Registry
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Acid maltase deficiency; Lysosomal acid α-glucosidase; Glycogen storage disease type II; Cardiomyopathy; Registry
Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Neuromuscular disorders; Glycogen storage disease type II; Enzyme Replacement Therapy; Lysosomal storage diseases; Pediatric
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Acid α-glucosidase; Late-onset; Disease progression
High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Pompe disease; Acid maltase; Acid α-glucosidase; Dried blood spot; Newborn screening; Genetic polymorphism
Immortalization of murine muscle cells from lysosomal α-glucosidase deficient mice: A new tool to study pathophysiology and assess therapeutic strategies for Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Myoblast immortalization; α-Glucosidase; CDK4
Pompe disease: A neuromuscular disease with respiratory muscle involvement
Keywords: نوع دوم ذخیره سازی گلیکوژن; Acid maltase deficiency; Glycogen storage disease type II; Pompe disease; Respiratory complications; Type II glycogenosis
Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Acid α-glucosidase; Acid maltase deficiency; Cardiomyopathy; Lysosomal storage disorder
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Acid maltase deficiency; Diagnosis; Lysosomal acid α-glucosidase; Enzyme assay, Acarbose
Therapeutic Approaches in Glycogen Storage Disease Type II/Pompe Disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Enzyme replacement therapy; gene therapy; glycogen storage disease type II; Pompe disease; lysosome;
Impact of late-onset Pompe disease on participation in daily life activities: Evaluation of the Rotterdam Handicap Scale
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; α-Glucosidase; Acid maltase; Handicap;
Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations
Keywords: نوع دوم ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease type II; Acid α-glucosidase; Lysosomal storage disease; Mutation analysis
Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II
Keywords: نوع دوم ذخیره سازی گلیکوژن; Chemical chaperone; Glycogen storage disease type II; Pompe disease; Acid maltase deficiency; Acid α-glucosidase; Deoxynojirimycin derivatives
Two new missense mutations of GAA in late onset glycogen storage disease type II
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Late onset; GAA; Missense mutation
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; Pompe disease; Glycogenosis type II; Acid α-glucosidase; Acid maltase deficiency; Lysosomal storage disease; Maltase–glucoamylase; Leukocytes; Enzymatic diagnosis
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease
Keywords: نوع دوم ذخیره سازی گلیکوژن; Glycogen storage disease type II; GSD-II; Pompe disease; Lysosome storage disease; Glc4; Oligosaccharide; HPLC; LC-MS/MS; Enzyme replacement therapy; Acid α-glucosidase;