Keywords: LOPD; Registry; Limb girdle muscle weakness; Acid alpha glucosidase;
مقالات ISI (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: CK; Creatine kinase; DBS; Dried blood spot; GAA; Alpha-glucosidase; GAG; Glycosaminoglycan; GBA; Beta-glucosidase; IDUA; Alpha-L-iduronidase; IOPD; Infantile-onset Pompe disease; LOPD; Late-onset Pompe disease; LSD; Lysosomal storage disorder; MPS; Mucopo
Keywords: LSDs; lysosomal storage diseases; FD; Fabry disease; GD; Gaucher disease; LOPD; late onset Pompe disease; MPS; mucopolysaccharidosis; NBSP; newborn screening perception questionnaire; BIPQ; brief illness perception questionnaire; Newborn screening; Lysoso
Keywords: 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: CDS; clinical decision support; VRUH; Virgen del RocÃo University Hospital; SCP; shared care platform; GP; general practitioner; TAM; technology acceptance model; IU; intention to use; PU; perceived usefulness; PEU; perceived ease of use; SN; subjective
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: 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: 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
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5Â years
Keywords: Late-onset Pompe disease; LOPD; Enzyme replacement therapy; Alpha glucosidase deficiency; Myozyme;
Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease
Keywords: 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
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function
Keywords: Pompe disease; Pulmonary function; Respiratory muscles; Computed tomography; Magnetic Resonance Imaging; LOPD;
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;
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