Normal Muscle Respiratory Chain Enzymes Can Complicate Mitochondrial Disease Diagnosis

Pediatric Neurology

Volumn 35, Issue 4, 2006, Pages 289-292

  Oglesbee, Devin ^a   Freedenberg, Debra ^b   Kramer, Karen A ^a   Anderson, Bambi D ^a   Hahn, Si Houn ^a  

^a Mayo Clinic   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CARNITINE; ERYTHROPOIETIN; LACTIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; MUSCLE ENZYME; RIBOFLAVIN; UBIQUINONE;

ANEMIA; APGAR SCORE; ARTICLE; BREATHING MUSCLE; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL EXAMINATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROENCEPHALOGRAPHY; ENZYMATIC ASSAY; FACE DYSMORPHIA; FEMALE; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; IMMUNOLOGICAL PROCEDURES; KIDNEY EXAMINATION; LABORATORY TEST; LACTATE BLOOD LEVEL; METABOLIC ACIDOSIS; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUSCLE FUNCTION; MUSCLE HYPOTONIA; MUSCLE TISSUE; MUTATIONAL ANALYSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKIN FIBROBLAST; TOTAL PARENTERAL NUTRITION; WESTERN BLOTTING;

ACIDOSIS, LACTIC; ATROPHY; BIOPSY; BLOTTING, WESTERN; CARNITINE; CENTRAL NERVOUS SYSTEM CYSTS; CEREBRAL VENTRICLES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; FRONTAL LOBE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; NERVE FIBERS, MYELINATED; POINT MUTATION;

EID: 33748686764     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2006.05.007     Document Type: Article

References (14)

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