Keywords: Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; GAA;
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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.
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: Coaches; Concussion; Concussion education; GAA; Mild traumatic brain injury; Needs assessment;
Keywords: 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: Brain neoplasm; Clinical trials; Glioblastoma; Immunotherapeutic; Immunotherapy; Vaccine; APC; Antigen-presenting cell; APVAC; Actively personalized vaccination; BBB; Blood-brain barrier; CMV; Cytomegalovirus; CNS; Central nervous system; CSF; Cerebrosp
Keywords: phospholipids; liposomes; apoptosis; immune response; proteins; biotechnology; HA; Hemophilia A; FVIII; factor VIII; GAA; acid alpha glucosidase; rhGAA; recombinant human GAA; PS; phosphatidylserine; TIM-4; T-cell immunoglobulin and mucin 4; MOG; myelin o
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: 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: 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: ADH; alcohol dehydrogenase; AH; acute alcoholic hepatitis; ALD; alcoholic liver disease; ALT; alanine aminotransferase; ARIC; Atherosclerosis Risk in Communities; ASH; alcoholic steato-hepatitis; AST; aspartate aminotransferase; ATM; ataxia-telangiectasis
Keywords: Birth asphyxia; Nutrition; Fetal development; Pregnancy; Spiny mouse; AGAT; arginine:glycine aminotransferase; ADP; adenosine diphosphate; ANT; Adenine nucleotide translocator; ATP; adenosine triphosphate; CK; Creatine Kinase; Cr; Creatine; GAA; guanidino
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: 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: 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: GAA; MOSFET; Rounded corners; SOI; Inversion charge distribution;
Keywords: 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: DBS; Dried blood spots collected on filter paper; MPS I; Mucopolysaccharidosis type I; MPS VI; Mucopolysaccharosis type VI; LSDs; Lysosomal storage disorders; LC/MS/MS; Liquid chromatography combined with tandem mass spectrometry; GAL; Alpha-galactosidase
Keywords: GAA; guanidinoacetic acid; Cr; creatine; Crn; creatinine; T-Hcy; total homocysteine; GAMT; GAA N-methyltransferase; SAH; S-adenosylhomocysteine; Creatine; Guanidinoacetic acid; Supplementation; Homocysteine; Kinetics; Urinary excretion;
Keywords: ADH; alcohol dehydrogenase; AH; acute alcoholic hepatitis; ALD; alcoholic liver disease; ALT; alanine aminotransferase; ASH; alcoholic steato-hepatitis; AST; aspartate aminotransferase; CDT; carbohydrate-deficient transferrin; CYP; cytochrome p450; GAA; g
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: 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
GIDL analysis of the process variation effect in gate-all-around nanowire FET
Keywords: GAA; Nanowire; GIDL; PVE; Reliability; Band-to-band tunneling;
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Keywords: GAA; Late onset Pompe disease (LOPD); Metabolic myopathies; LGMD; HyperCKemia; Gene panels;
Performance analysis of gate all around GaAsP/AlGaSb CP-TFET
Keywords: GAA; Charge plasma; RDF; Hetero-junction;
Astrocytic γ-aminobutyric acid (GABA) transporters mediate guanidinoacetate transport in rat brain
Keywords: Guanidinoacetate; Creatine; GABA transporter; Astrocyte; GABA; Neuron-glial relationship; aCSF; artificial cerebrospinal fluid; AGAT; l-arginine-glycine amidinotransferase; CHO; Chinese hamster ovary; CRT; creatine transporter; DAPI; 4â²,6-diamidino-2-ph
Skeletal muscle-specific Sidt2 knockout in mice induced muscular dystrophy-like phenotype
Keywords: α-GPD; α-glyceraldehyde 3-phosphate dehydrogenase; ACP; acid phosphatase; AMP; adenosine monophosphate; β-gal; beta-galactosidase; CK; creatine kinase; H&E; hematoxylin and eosin; GAA; lysosomal alpha-glucosidase; GAPDH; glyceraldehyde-3-phosphate dehy
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
Keywords: 6MWT; 6-minute walk test; AE; adverse event; CI-MPR; cation-independent mannose-6-phosphate receptor; CK; creatine kinase; CRIM; cross-reactive immunologic material; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; Glc4; glucose tetrasacchari
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
Keywords: 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
Plasma and brain pharmacokinetics of ganoderic acid A in rats determined by a developed UFLC-MS/MS method
Keywords: CSF; cerebrospinal fluid; GAA; ganoderic acid A; GLA; glycyrrhizic acid; MRM; multiple reaction monitoring; Ganoderic acid A; UFLC-MS/MS; Pharmacokinetics; Plasma; Brain microdialysis;
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;
Phenolic compounds and antioxidant capacity in different-colored and non-pigmented berries of bilberry (Vaccinium myrtillus L.)
Keywords: 4-HBA; 4-Hydroxybenzoic Acid; AAPH; 2,2â²-Azobis(2-methylpropionamidine)dihydrochloride; AC; Antioxidant Capacity; CaA; Caffeic Acid; DBC; 2,6-di-tert-butyl-p-cresol; DPPH; 2,2-Diphenyl-1-Picrylhydrazyl; FC; Folin-Ciocalteu; FeA; Ferulic Acid; FRAP; Ferr
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
TpPa-2-incorporated mixed matrix membranes for efficient water purification
Keywords: COFs; covalent organic frameworks; SBET; Brunauer-Emmett-Teller surface area; Tp; 1,3,5-triformylphloroglucinol; Pa-2; 2,5-dimethyl-p-ph-enylenediamine; GAA; glacial acetic acid; TpPa-2; sythesized by solvothermal method; TpPa-2MC; TpPa-2 sythesized by me
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
Keywords: GAMT; guanidinoacetate methyltransferase; BC; British Columbia; GAA; guanidinoacetate; LC-MS/MS; liquid chromatography tandem mass spectrometry; MSUD; maple syrup urine disease; AGAT; arginine:glycine amidinotransferase; ddH20; distilled deionized water;
Laser Voltage Probing (LVP) - Its value and the race against scaling
Keywords: Laser Voltage Probing; LVP; VLI; Electro-optical Probing; Laser Timing Probe; LTP; Frequency mapping; Modulation mapping; Effects; Interference; Signal generation; Benefits; Challenges; ITRS; Scaling; FinFET; GAA; 3D;
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
Keywords: 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: 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
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
Keywords: 6MWT; 6-Minute Walk Test; AE; adverse event; BMI; body mass index; CI; confidence interval; ERT; enzyme replacement therapy; FVC; forced vital capacity; GAA; α-glucosidase; HRLM; high-resolution light microscopy; PFT; pulmonary function testing; GMFCS-E&
BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease
Keywords: 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;
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
Keywords: AGAT; arginine:glycine amidinotransferase; CDD; creatine deficiency disorders; CPK; creatine phosphokinase; CRTR; creatine transporter; CSF; cerebrospinal fluid; EEG; electroencephalogram; GAA; guanidinoacetate; GAMT; guanidinoacetate methyltransferase; G
Innovative approach in Pompe disease therapy: Induction of immune tolerance by antigen-encapsulated red blood cells
Keywords: 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: 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
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: 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
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency
Keywords: Triple H; hyperornithinemia, hyperammoniemia, and homocitrullinuria; OTC; ornithine transcarbamoylase; CHUS; Centre hospitalier universitaire de Sherbrooke; AGAT; arginine:glycine amidino-transferase; GAA; guanidineacetic acid; GAMT; guanidinoacetate N-me
Cross-sectional analysis of glucose metabolism in Friedreich Ataxia
Keywords: FRDA; Friedreich ataxia; HOMA; Homeostatic Model Assessment; BMI; Body mass index; GAA; Guanine-adenine-adenine; FARS; Friedreich ataxia rating scale; CHOP; Children's Hospital of Philadelphia; Metabolism; Diabetes; Mitochondria; Triplet repeat;
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry
Keywords: 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: 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;
Electrical characterization of high performance, liquid gated vertically stacked SiNW-based 3D FET biosensors
Keywords: ISFET; Sensor; FinFET; SiNW; GAA; Ion sensitive field effect transistor;
GuÃa de práctica clÃnica de la ESC sobre diabetes, prediabetes y enfermedad cardiovascular, en colaboración con la European Association for the Study of Diabetes
Keywords: GuÃas de Práctica ClÃnica; Diabetes mellitus; Enfermedad cardiovascular; Intolerancia a la glucosa; Manejo del paciente; Prevención; EpidemiologÃa; Pronóstico; Diagnóstico; Factores de riesgo; Tratamiento farmacológico; Intervenciones coronarias;
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element
Keywords: 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
Presymptomatic late-onset Pompe disease identified by the dried blood spot test
Keywords: 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;
Original ArticleIdentification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry
Keywords: CDC; Centers for Disease Control and Prevention; GAA; α-glucosidase; GLA; α-galactosidase; IDUA; α-L-iduronidase; LSD; Lysosomal storage disease; MPS; Mucopolysaccharidosis; MS/MS; Tandem mass spectrometry; PCR; Polymerase chain reaction; QC; Quality c