Inborn errors of energy metabolism associated with myopathies

Journal of Biomedicine and Biotechnology

Volumn 2010, Issue , 2010, Pages

  Das, Anibh M ^a   Steuerwald, Ulrike ^b   Illsinger, Sabine ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Screening Laboratory Hannover   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; ANTICONVULSIVE AGENT; CARNITINE; DANTROLENE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; FATTY ACID; GENTAMICIN; GLUCAGON; GLYCOGEN; INSULIN; PYRIDOXINE; RIBOFLAVIN; UBIDECARENONE; VERAPAMIL;

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CARNITINE TRANSPORTER DEFICIENCY; CLINICAL FEATURE; COMPLEX I DEFICIENCY; DIABETES MELLITUS; DIET THERAPY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; EVIDENCE BASED MEDICINE; EXERCISE TOLERANCE; FATTY ACID OXIDATION DISORDER; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 3; GLYCOGEN STORAGE DISEASE TYPE 5; GLYCOGEN STORAGE DISEASE TYPE 7; HEART MUSCLE; HUMAN; INBORN ERROR OF ENERGY METABOLISM; INBORN ERROR OF METABOLISM; LABORATORY TEST; MALIGNANT HYPERTHERMIA; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE METABOLISM; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYALGIA; MYOGLOBINURIA; MYOPATHY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOGENESIS; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; REVIEW; SEIZURE; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLISM; MUSCLE; PHYSIOLOGY;

ENERGY METABOLISM; HUMANS; METABOLISM, INBORN ERRORS; MUSCLES; MYOPATHIES, STRUCTURAL, CONGENITAL;

EID: 77953517080     PISSN: 11107243     EISSN: 11107251     Source Type: Journal    
DOI: 10.1155/2010/340849     Document Type: Review

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