Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Diet therapy; Safety; Complications; Hypoglycemia; Safety management; ABGLICO; Associação Brasileira de Glicogenose; AGSD; Association for Glycogen Storage Disease; CGM; Continuous Glucose Monitoring; CNGDF; Continuous nocturna
مقالات ISI بیماری ذخیره سازی گلیکوژن (ترجمه نشده)
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Keywords: بیماری ذخیره سازی گلیکوژن; Metabolic myopathies; Glycogen storage disease; Mitochondrial disease; Lipid; Purine; Metabolism; Myopathy;
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Uncooked cornstarch; Sleep; Quality of life;
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Hypoglycemia; Ketosis; Lactate; Disorders of gluconeogenesis; Ketotic hypoglycemia;
Keywords: بیماری ذخیره سازی گلیکوژن; PSSM1; Polyglucosan; Glycogen synthase; Glycogen; Muscle; Glycogen storage disease;
Keywords: بیماری ذخیره سازی گلیکوژن; Acid α-glucosidase enzyme; Bilevel positive airway pressure; Enzyme replacement therapy; Forced vital capacity; Glycogen storage disease; Pompe diseaseFRC, functional residual capacity; GAA, acid α-glucosidase
Keywords: بیماری ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease; Adeno-associated virus vector; Mannose-6-phosphate receptor; Enzyme replacement therapy
Keywords: بیماری ذخیره سازی گلیکوژن; Metabolic myopathies; Glycogenosis; Exercise training; Substrate supplementation; Myoglobinuria; GSD; glycogen storage disease; ATP; adenosine triphosphate; PHK; phosphorylase kinase; CK; creatine kinase; GDE; glycogen debranching enzyme; PGM; phosphogluc
Keywords: بیماری 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: بیماری ذخیره سازی گلیکوژن; ALT; alanine transaminase; AST; aspartate transaminase; CDG; congenital disorder of glycosylation; GSD; glycogen storage disease; IEF; isoelectric focusing; LFT; liver function tests; MS; mass spectrometry; NGS; next generation sequencing; PAS; Periodic a
Keywords: بیماری ذخیره سازی گلیکوژن; epithelial-mesenchymal transition; gluconeogenesis; glycogen storage disease; microalbuminuria; nephropathy; podocyte injury;
Keywords: بیماری ذخیره سازی گلیکوژن; PB; polyglucosan body; PAS; periodic acid Schiff; APBD; adult polyglucosan body disease; GBE; glycogen branching enzyme; GSD; glycogen storage disease; NF; neurofilaments; LFB; Luxol-fast blue; GFAP; glial fibrillary acidic protein; AQP4; aquaporin 4; MBP
Keywords: بیماری ذخیره سازی گلیکوژن; Lactate; Brain energy metabolism; Glycogen storage disease; Brain injury; Mitochondrial disease; GLUT1 deficiency syndrome
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Polyglucosan body myopathy; Progressive muscle weakness; Limb girdle muscle weakness;
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; GSD; Deoxysphingolipids; Lipids; Metabolism; Glucose; 1-deoxySL; 1-Deoxysphinglipids; 1-deoxySA; 1-Deoxysphinganine; 1-deoxySO; 1-Deoxysphingosine; GSD; Glycogen storage disease; SPT; Serine palmitoyltransferase;
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa
Keywords: بیماری ذخیره سازی گلیکوژن; GSD; glycogen storage disease; PhK; phosphorylase kinase; XLG; X-linked liver glycogenosis; ALT; aminotransferase; AST; aspartate aminotransferase; CR; serum creatinine; TC; total cholesterol; TG; total triglyceride; CK; creatine kinase; NGS; next-generat
A novel GBE1 gene variant in a child with glycogen storage disease type IV
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Novel GBE1 variant; Liver biopsy; Glycogen branching enzyme; Hepatocyte inclusions;
Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Muscle ultrasound density; Muscle force; Electromyography; Myopathy; Echogenicity; Glycogen; Child; Adult;
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: بیماری ذخیره سازی گلیکوژن; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts dire
Keywords: بیماری ذخیره سازی گلیکوژن; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
Keywords: بیماری ذخیره سازی گلیکوژن; Myopathy; Creatine kinase; Dried blood spots; Enzyme replacement therapy; Glycogen storage disease; GAA deficiency;
Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children
Keywords: بیماری ذخیره سازی گلیکوژن; BOHB; Beta-hydroxybutyrate; FFA; Free fatty acid; GRADE; Grading of Recommendations Assessment, Development, and Evaluation; GSD; Glycogen storage disease; HAAF; Hypoglycemia-associated autonomic failure; IV; Intravenous; PG; Plasma glucose;
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
Keywords: بیماری ذخیره سازی گلیکوژن; ASAT; aspartate amino transferase; ALAT; alanine amino transferase; CDG; congenital disorder of glycosylation; CK; creatine kinase; GSD; glycogen storage disease; GALT; galactose phosphate uridyl transferase; GALE; galactose phosphate 4 epimerase; OGTT; o
Glycogen storage disease type III in Egyptian children: A single centre clinico-laboratory study
Keywords: بیماری ذخیره سازی گلیکوژن; Children; Egypt; Glycogen storage disease; GSD; GSD III
Aggressive therapy improves cirrhosis in glycogen storage disease type IX
Keywords: بیماری ذخیره سازی گلیکوژن; GSD; Glycogen storage disease; PhK; Phosphorylase b kinase; XLG; X-linked glycogenosis; Glycogen storage disease type IX; Cirrhosis; Treatment;
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Phosphorylase kinase deficiency; X-linked; Liver glycogenosis;
Case reportWhole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
Keywords: بیماری ذخیره سازی گلیکوژن; Pterygia; Whole exome sequencing; Glycogen storage disease; GBE1; Foetal akinesia;
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?
Keywords: بیماری ذخیره سازی گلیکوژن; GSD III; Glycogen Storage Disease Type III; GDE; glycogen debranching enzyme; VO2peak; peak oxygen uptake; Wpeak; peak work rate; RER; respiratory exchange ratio; RPE; ratings of perceived exertion; FFA; free fatty acid; PFK; phosphofructokinase; Glycogen
Enzymes involved in l-lactate metabolism in humans
Keywords: بیماری ذخیره سازی گلیکوژن; ALT; alanine aminotransferase; ATP; adenine triphosphate; CoA; coenzyme A; FAD; flavin adenine dinucleotide; GPT; glutamate pyruvate transaminase; GSD; glycogen storage disease; LDH; lactate dehydrogenase; NAD+; oxidized nicotinamide adenine dinucleotide;
Keywords: بیماری ذخیره سازی گلیکوژن; cost-effectiveness; drug reimbursement; health policy; glycogen storage disease; mucopolysaccharidosis
Multidisciplinary management of an obstetric patient with glycogen storage disease type 3
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Anaesthesia; Pregnancy; Caesarean delivery
Case reportMuscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Glycogen synthase; Glycogen; Syncope; Sudden death;
Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa
Keywords: بیماری ذخیره سازی گلیکوژن; GDE; Glycogen Debranching Enzyme; GSD; Glycogen Storage Disease; IOPI; Iowa Oral Performance Instrument; MRI; Magnetic Resonance Imaging; Glycogen storage disease type III; Lingual weakness; Tongue; Bulbar muscles; Fat fraction; MRI;
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype
Keywords: بیماری ذخیره سازی گلیکوژن; FBS; Fanconi-Bickel syndrome; GFR; glomerular filtration rate; GLUT2; glucose transporter-2; GOT; glutamate-oxalacetate transaminase (=Â ASAT, aspartate aminotransferase); GPT; glutamate-pyruvate transaminase (=Â ALAT, alanine aminotransferase); HbA1c;
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
Keywords: بیماری 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
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen; Glycogenin; Glycogen storage disease; Cell-free expression; Mass spectrometry
New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase
Keywords: بیماری ذخیره سازی گلیکوژن; Glucose-6-phosphatase; Glucose-6-phosphatase catalytic unit; Glucose-6-phosphate transporter; Fluorescence energy transfer; Glycogen storage disease type 1; CFP; cyan fluorescent protein; ER; endoplasmic reticulum; FRET; fluorescence resonance energy tran
Exercise Testing in Metabolic Myopathies
Keywords: بیماری ذخیره سازی گلیکوژن; Mitochondrial disease; Fatty acid oxidation defects; Glycogen storage disease; Rhabdomyolysis;
Diagnostic Biopsies of the Native Heart
Keywords: بیماری ذخیره سازی گلیکوژن; Endomyocardial biopsy; Amyloidosis; Myocarditis; Sarcoidosis; Hemochromatosis; Fabry disease; Danon disease; Glycogen storage disease; Amiodarone toxicity; Chloroquine toxicity;
Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Mutation; Phosphorylase kinase
Restriktive Kardiomyopathie
Keywords: بیماری ذخیره سازی گلیکوژن; Restriktive Kardiomyopathie; RCM; idiopathische restriktive Kardiomyopathie; Löffler-Kardiomyopathie; Endomyokardfibrose; Amyloidose; Sarkoidose; Hämochromatose; Morbus Fabry; Glykogenspeichererkrankungen; hypereosinophiles Syndrom; Restrictive cardiomy
Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies
Keywords: بیماری ذخیره سازی گلیکوژن; GSD; glycogen storage disease; Pase; phosphorylase; Phk; phosphorylase b kinase; LF; liver failure; ALT; alanine aminotransferase; AST; aspartate aminotransferase; GGT; gamma-glutamyl transferase; ULN; upper limit of normal range; SNP; single nucleotide p
Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas
Keywords: بیماری ذخیره سازی گلیکوژن; G6Pase; glucose-6 phosphatase; G6PC; catalytic subunit of G6Pase; GSD1a; glycogen storage disease type 1a; wt; wild type; NEFA; non esterified fatty acid; HCA; hepatocellular adenomas; MRI; magnetic resonance imaging; Glycogen storage disease; Glucose-6 p
Metabolic Myopathies: Clinical Features and Diagnostic Approach
Keywords: بیماری ذخیره سازی گلیکوژن; Inherited disorders of metabolism; Metabolic myopathy; Glycogen storage disease; Mitochondrial disorder; Fatty acid oxidation;
Biologic and Clinical Features of Benign Solid and Cystic Lesions of the Liver
Keywords: بیماری ذخیره سازی گلیکوژن; Adenoma; Hepatocellular; Hyperplasia; Hemangioma; Polycystic Liver Disease; Cystadenoma; AAS; anabolic androgenic steroids; ADPKD; autosomal dominant polycystic kidney disease; AP; alkaline phosphatase; BMI; body mass index; CA19-9; carbohydrate antigen 1
An adult male patient with multiple adenomas and a hepatocellular carcinoma: Mild Glycogen Storage Disease type Ia
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Adenomatosis; β-Catenin; Adult;
Metabolic disorders presenting as liver disease
Keywords: بیماری ذخیره سازی گلیکوژن; cholestasis; fatty acid oxidation; glycogen storage disease; hepatomegaly; hyperbilirubinaemia; hypoglycaemia; inherited metabolic disease; liver disease; lysosomal storage
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
Keywords: بیماری ذخیره سازی گلیکوژن; mTOR; Pompe disease; Glycogen storage disease; Glycogen synthase; Rapamycin; Enzyme replacement therapy
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
Keywords: بیماری ذخیره سازی گلیکوژن; Pompe disease; Glycogen storage disease; Enzyme replacement therapy; Lysosomal storage disease; Acid alpha glucosidase; GAA; Cross-reactive immunologic material; CRIM; Antibody
Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
Keywords: بیماری ذخیره سازی گلیکوژن; Glycogen storage disease; Debranching enzyme; Myopathy; Muscle function; Perfusion; BOLD; Glycogen; NMR; Spectroscopy; Imaging;