Diagnostic approach in infants and children with mitochondrial diseases

Pediatrics and Neonatology

Volumn 56, Issue 1, 2015, Pages 7-18

  Chi, Ching Shiang ^a  

^a TUNGS' TAICHUNG METROHARBOR HOSPITAL   (Taiwan)

Author keywords

diagnosis; infants and children; mitochondrial diseases; Taiwan

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; OXIDOREDUCTASE; PYRUVIC ACID; SUCCINATE DEHYDROGENASE;

ALGORITHM; AMINO ACID BLOOD LEVEL; APNEA; BIOCHEMISTRY; BLOOD ANALYSIS; BLURRED VISION; CEREBROVASCULAR ACCIDENT; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONSCIOUSNESS DISORDER; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DISEASE MARKER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DIVERGENT STRABISMUS; DYSTONIA; ENZYMATIC ASSAY; ENZYME ANALYSIS; EXTERNAL OPHTHALMOPLEGIA; EYE MOVEMENT; FAILURE TO THRIVE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRAIT; HEART ARRHYTHMIA; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; INBORN ERROR OF METABOLISM; INFANT; INVOLUNTARY MOVEMENT; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MELAS SYNDROME; MENTAL DEFICIENCY; MERRF SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL GENETICS; MITOCHONDRIAL GENOME; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; MITRAL VALVE PROLAPSE; MNGIE SYNDROME; MUSCLE BIOPSY; NARP SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; OPTIC NERVE ATROPHY; PEARSON SYNDROME; PERICARDIAL EFFUSION; PHENOTYPE; PTOSIS; RESPIRATORY CHAIN; RETINITIS PIGMENTOSA; REVIEW; SCORING SYSTEM; SEIZURE; SPASTICITY; STRABISMUS; SUDDEN INFANT DEATH SYNDROME; TANDEM MASS SPECTROMETRY; TREMOR; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT; GENETICS; METABOLISM; MITOCHONDRIAL DISEASES;

ALGORITHMS; CHILD; DNA, MITOCHONDRIAL; HUMANS; INFANT; MITOCHONDRIA; MITOCHONDRIAL DISEASES;

EID: 84921815491     PISSN: 18759572     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedneo.2014.03.009     Document Type: Review

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