Keywords: بیماری پومپ; Pompe disease; Alglucoside alfa; Cardiomyopathy; Enzyme replacement therapy; Infantile onset Pompe disease;
مقالات ISI بیماری پومپ (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: بیماری پومپ; Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; GAA;
Keywords: بیماری پومپ; Pompe disease; Enzyme replacement therapy; Follow-up; 6MWT;
Keywords: بیماری پومپ; Smart technology; e-Health; Pompe disease; Glycogen storage disease type II;
Keywords: بیماری پومپ; Glycophagy; STBD1; Pompe disease; Diabetic cardiomyopathy; FoxO1;
Keywords: بیماری پومپ; LSD; Newborn screening; Lysosomal storage disorder; Fabry disease; Pompe disease; Gaucher disease; Krabbe disease; Mucopolysaccharidosis type I; Niemann-Pick A/B;
Keywords: بیماری پومپ; ERT; Enzyme replacement therapy; GAA; α-glucosidase; IMST; Inspiratory muscle strength training; LC; Load compensation; MIP; Maximal inspiratory pressure; MRI; Magnetic resonance imaging; MV; Mechanical ventilation; Pompe disease; Diaphragm; Gene therapy
Keywords: بیماری پومپ; Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; Lysosomal storage disease; Acid maltase deficiency; Autophagy;
Keywords: بیماری پومپ; newborn screening; Duchenne muscular dystrophy; Pompe disease; spinal muscular atrophy; consent; ethics;
Keywords: بیماری پومپ; Valores de referencia; Enfermedad de Pompe; Actividad alfa-glucosidasa ácida intralinfocitaria; Reference values; Pompe disease; Intralymphocyte acid alpha-glucosidase activity;
Keywords: بیماری پومپ; Glycogen Storage Disease type II (GSDII); Pompe disease; Enzyme replacement therapy (ERT);
Keywords: بیماری پومپ; Pompe disease; Glycogen storage disease; Adeno-associated virus vector; Mannose-6-phosphate receptor; Enzyme replacement therapy
Keywords: بیماری پومپ; 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: بیماری پومپ; 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: بیماری پومپ; Alglucosidase alfa; Enzyme replacement therapy; Infantile onset; Late onset; Pompe disease; Clinical decline; Dose;
Keywords: بیماری پومپ; Newborn screening; Lysosomal storage disease; Fabry disease; Pompe disease; Gaucher disease; Tandem mass spectrometry
Keywords: بیماری پومپ; Alfa-glucosidasa ácida; Consenso; Deficiencia de maltasa ácida lisosomal; Enfermedad de Pompe; Glucogenosis tipo ii; Terapia de reemplazo enzimáticoAcid alpha-glucosidase; Consensus; Lysosomal acid maltase deficiency; Pompe disease; Glycogen storage disea
Keywords: بیماری پومپ; Pompe disease; Glycogen storage disease type 2; Acid maltase deficiency; Acid α-glucosidase; Lysosomal storage disorders; Pain;
Keywords: بیماری پومپ; Neuromuscular diseases; Pompe disease; Respiratory failure; Mechanical ventilation; Dyspnoea;
Prevalence and ancestral origin of the c.1987delC GAA gene mutation causing Pompe disease in Central Mexico
Keywords: بیماری پومپ; Pompe Disease; GAA mutation; Ancestry; Component;
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
Keywords: بیماری پومپ; Lysosomal disease; Pompe disease; Acid α-glucosidase; Genotype-phenotype correlation;
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient
Keywords: بیماری پومپ; Pompe disease; Immunogenicity; Anti-rhGAA IgG antibodies; Immunomodulation; High dose IVIG;
Screening for Pompe disease in a Portuguese high risk population
Keywords: بیماری پومپ; Pompe disease; High risk population screening; Dried blood spot; Acid α-glucosidase deficiency;
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
Keywords: بیماری پومپ; GAA; acid alpha-glycosidase; ERT; enzyme replacement therapy; FVC; forced vital capacity; MIP; maximum inspiratory pressure; MEP; maximum expiratory pressure; MFM; Motor Measure Function scale; Pompe disease; Advanced; Respiratory failure; Enzyme replacem
Severe trismus due to bilateral elongated mandibular coronoid process in an infantile-onset Pompe disease patient: A case report
Keywords: بیماری پومپ; Elongated mandibular coronoid process; Coronoid hyperplasia; Pompe disease; IOPD; Trismus;
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: بیماری پومپ; 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
Production of recombinant human acid α-glucosidase with high-mannose glycans in gnt1 rice for the treatment of Pompe disease
Keywords: بیماری پومپ; Pompe disease; Acid α-glucosidase (GAA); Rice α-amylase 3D (RAmy3D) promoter; Rice cell suspension culture; N-glycosylation; gnt1 rice mutant;
The emerging phenotype of late-onset Pompe disease: A systematic literature review
Keywords: بیماری پومپ; Pompe disease; Glycogen storage disease type II; Late-onset Pompe disease; Natural history; Multisystem disease;
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease
Keywords: بیماری پومپ; Pompe disease; Enzyme replacement therapy; Hypersensitivity; Desensitization; Simplified protocol;
Production and characterization of recombinant human acid α-glucosidase in transgenic rice cell suspension culture
Keywords: بیماری پومپ; Pompe disease; Acid α-glucosidase (GAA); Rice α-amylase 3D (RAmy3D) promoter; Agrobacterium tumefaciens; Transgenic rice cell suspension culture;
Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia
Keywords: بیماری پومپ; Alpha glucosidase; Idiopathic hyperCKemia; Maltase deficiency; Myopathy; Pompe disease;
Characterization of gait in late onset Pompe disease
Keywords: بیماری پومپ; Pompe disease; Neuromuscular disease; GAITRite; Gait analysis; Temporospatial parameters
Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease
Keywords: بیماری پومپ; Pompe disease; Late-onset type II glycogenosis; Respiratory muscles; Muscle training; Enzyme replacement therapy
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Keywords: بیماری پومپ; GAA-MLPA; GAA mutation; Glycogen storage disease type 2; Homozygosity; Pompe disease
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment
Keywords: بیماری پومپ; Pompe disease; Diaphragm; Respiratory muscles MRI
Innovative approach in Pompe disease therapy: Induction of immune tolerance by antigen-encapsulated red blood cells
Keywords: بیماری پومپ; 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
Screening for late-onset Pompe disease in Finland
Keywords: بیماری پومپ; 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: بیماری پومپ; 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
Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements
Keywords: بیماری پومپ; Pompe disease; Eye movements; Saccades; Extraocular muscles; Neuroophthalmology;
Pregnancy and delivery in women with Pompe disease
Keywords: بیماری پومپ; Glycogen storage disease type 2; Pompe disease; Pregnancy complication; Delivery;
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry
Keywords: بیماری پومپ; ACP; acid phosphatase; CRIM; cross-reactive immunologic material; DBS; dried blood spot; ECG; electrocardiogram; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; IRB/EC; Institutional Review Board or Ethics Committee; MRI; magnetic resonance
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease
Keywords: بیماری پومپ; 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;
Presymptomatic late-onset Pompe disease identified by the dried blood spot test
Keywords: بیماری پومپ; Pompe disease; Acid maltase deficiency; Late-onset; Juvenile-onset; Dried blood spot test; GAA; Presymptomatic; Splice-site mutation; cDNA analysis; Enzyme activity; c.â32â13T>G mutation;
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element
Keywords: بیماری پومپ; MLPA; Multiplex ligation-dependent probe amplification; Array CGH; array-comparative genomic hybridization; PCR; polimerase chain reaction; GAA; glucosidase, alpha, acid; CCDC40; coiled-coil domain containing 40; CDH4; cadherin-4; Kbp; kilobase pairs; GAA
The impact of informal care for patients with Pompe disease: An application of the CarerQol instrument
Keywords: بیماری پومپ; Pompe disease; Informal care; CarerQol instrument; Caregiver burden;
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function
Keywords: بیماری پومپ; Pompe disease; Pulmonary function; Respiratory muscles; Computed tomography; Magnetic Resonance Imaging; LOPD;
The Rasch-built Pompe-specific Activity (R-PAct) scale
Keywords: بیماری پومپ; Pompe disease; Acid α-glucosidase; Patient reported outcome measures; Disability measure; Rasch analysis;
Glucosa tetrasacárido como biomarcador diagnóstico de la enfermedad de Pompe: estudio en 35 pacientes
Keywords: بیماری پومپ; Enfermedad de Pompe; Glucosa tetrasacárido; Biomarcador diagnóstico; Curva caracterÃstica operativa del receptor; Pompe disease; Tetra-saccharide glucose; Diagnostic biomarker; Receiver operating characteristic curve;
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease
Keywords: بیماری پومپ; Pompe disease; Pompe registry; Acid alpha-glucosidase deficiency; Maladie de Pompe; Registre de la maladie de Pompe; Déficit en alpha-glucosidase acide;
Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
Keywords: بیماری پومپ; acid α-glucosidase; enzyme replacement therapy; glycogen storage disease type II; newborn screening; Pompe disease