Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Pediatrics International

Volumn 54, Issue 5, 2012, Pages 585-601

  Vasta, Valeria ^a   Merritt Ii, J Lawrence ^b   Saneto, Russell P ^b   Hahn, Si Houn ^a,b  

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

mitochondrial disorders; mitochondrial respiratory chain complex enzyme deficiency; next generation sequencing

Indexed keywords

ACYLCARNITINE; CYTOCHROME C OXIDASE; FAT DROPLET; GLUTARIC ACID; LACTIC ACID; MITOCHONDRIAL ENZYME; MITOCHONDRIAL PROTEIN;

ABSENCE; ADOLESCENT; ARTICLE; ATAXIA; AUTISM; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CHILD; CLINICAL ARTICLE; COMPLEX III DEFICIENCY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FAILURE TO THRIVE; FEMALE; GASTROESOPHAGEAL REFLUX; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HEMIPARESIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFANT; INFANTILE SPASM; KETOGENIC DIET; KIDNEY FAILURE; LACTATE BLOOD LEVEL; LANGUAGE DEVELOPMENT; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; LONG QT SYNDROME; MALE; MOTOR PERFORMANCE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOCLONUS; NEPHROTIC SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RESPIRATORY CHAIN; SCHOOL CHILD; SEIZURE; SYNDROME; URINARY EXCRETION; VISUAL IMPAIRMENT;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84867031832     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2012.03644.x     Document Type: Article

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