Keywords: میوپاتی متابولیک; Fatty acid oxidation; Primary myopathy; Metabolic myopathy; Tandem mass spectrometry; Dropped head syndrome;
مقالات ISI میوپاتی متابولیک (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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: میوپاتی متابولیک; Phosphoglycerate kinase; Metabolic myopathy; PGK;
Keywords: میوپاتی متابولیک; Myopathy; Limb-girdle; Distal myopathy; Inflammatory myopathy; Metabolic myopathy; Myotonia;
Keywords: میوپاتی متابولیک; Metabolic myopathy; Hypotonia; Autosomal recessive; Enzyme replacement therapy; Newborn screening; Lysosomal glycogen storage disease;
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa
Keywords: میوپاتی متابولیک; AST; aspartate aminotransferase; CK; creatine kinase; GSDIII; Glycogen storage disease type III; MFM; Motor Function Measure; GDE; glycogen debranching enzyme; PLD; phosphorylated limit dextrin; AIC; Akaike Information Criterion; nlme; Linear and Nonlinea
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
Keywords: میوپاتی متابولیک; Glycogen storage disease type III; Debranching enzyme deficiency; Metabolic myopathy; Outcome measures;
Case reportDystrophinopathy mimicking metabolic myopathies
Keywords: میوپاتی متابولیک; Becker muscular dystrophy; Dystrophin; Dystrophinopathy; Metabolic myopathy; Rhabdomyolysis;
Acylcarnitine profile in thyroid disease
Keywords: میوپاتی متابولیک; Hypothyroidism; Hyperthyroidism; Metabolic myopathy; Acylcarnitine profile
Noninflammatory Myopathies
Keywords: میوپاتی متابولیک; Myopathy; Metabolic myopathy; Differential diagnosis; Polymyositis; Mitochondrial myopathy; Muscle glycogenoses;
Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis
Keywords: میوپاتی متابولیک; Metabolic myopathy; Intronic mutation; Cryptic exon; Antisense oligonucleotide; Intronic splicing silencer
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
Keywords: میوپاتی متابولیک; 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
Metabolic Myopathies: Clinical Features and Diagnostic Approach
Keywords: میوپاتی متابولیک; Inherited disorders of metabolism; Metabolic myopathy; Glycogen storage disease; Mitochondrial disorder; Fatty acid oxidation;
Pompe's Disease in Childhood: A Metabolic Myopathy
Keywords: میوپاتی متابولیک; Metabolic myopathy; Pompe's disease; Hypotonia; Cardiomegaly; Hepatomegaly; Acid alpha-glucosidase
Déficit multiple en acyl-CoA déshydrogénases : une cause traitable de lipidose musculaire d'origine génétique
Keywords: میوپاتی متابولیک; Lipidose musculaire; Déficit multiple en acyl-CoA déshydrogénases; Myopathie métabolique; Muscular lipidosis; Multiple acyl-CoA dehydrogenase deficiency; Metabolic myopathy;
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy
Keywords: میوپاتی متابولیک; Metabolic myopathy; Exercise intolerance; ISCU; Mitochondrial respiratory chain; Splice affecting mutation; RNA processing
Les glycogénoses
Keywords: میوپاتی متابولیک; Glycogénose; hépatomégalie; hypoglycémie; myopathie métabolique; thérapie enzymatique substitutive; Glycogen storage disease; hepatomegaly; hypoglycemia; metabolic myopathy; enzyme replacement therapy;
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
Keywords: میوپاتی متابولیک; Muscle lipidosis; Very Long-Chain Acyl-Coenzyme A dehydrogenase; Fatty acid oxidation; Metabolic myopathy
Therapeutic Options in Other Metabolic Myopathies
Keywords: میوپاتی متابولیک; McArdle disease; rhabdomyolysis; metabolic myopathy; carnitine palmitoyltransferase (CPT) 2 deficiency; glycogen storage disease; lipid storage disease;
Tubular aggregate myopathy: A rare form of myopathy
Keywords: میوپاتی متابولیک; Tubular aggregate myopathy; Electron microscopy; Enzyme histochemistry; Metabolic myopathy; Mitochondrial myopathy
Identificación de mutaciones en el gen CPT2 en un caso con déficit muscular de carnitina palmitoiltransferasa II,
Keywords: میوپاتی متابولیک; Carnitina palmitoiltransferasa II; CPT2; Diagnóstico molecular; Intolerancia al ejercicio; MiopatÃa metabólica; Carnitine palmitoyltransferase II; CPT2; Molecular diagnosis; Exercise intolerance; Metabolic myopathy;
Myopathies in the adult patient
Keywords: میوپاتی متابولیک; metabolic myopathy; muscle biopsy; muscular dystrophy; myopathy; myositis
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency
Keywords: میوپاتی متابولیک; Metabolic myopathy; Rhabdomyolysis; CPT2 deficiency; R631C mutation
Nouveautés dans le traitement des myopathies métaboliques
Keywords: میوپاتی متابولیک; Myopathie métabolique; Maladie de McArdle; Maladie de Pompe; Glycogénose musculaire; Déficit en CPTII; Metabolic myopathy; McArdle's disease; Myophosphorylase deficiency; Pompe's disease; CPTII deficiency;
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction
Keywords: میوپاتی متابولیک; Metabolic myopathy; Polyneuropathy; Cardiac involvement; Cardiomyopathy; Muscular dystrophy; Heart failure; Rhythm abnormalities
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene
Keywords: میوپاتی متابولیک; McArdle's disease; Muscle glycogen phosphorylase deficiency; Metabolic myopathy; Mutation; ACE genotype; Phenotype modulators;
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
Keywords: میوپاتی متابولیک; Metabolic myopathy; Myoadenylate deaminase deficiency; Splice site mutation; Alternative splicing; Compound heterozygosity;