A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child

Pediatrics and Neonatology

Volumn 53, Issue 4, 2012, Pages 264-268

  Liu, Hsin Ming ^a   Tsai, Li Ping ^b   Chien, Yin Hsiu ^a   Wu, Jia Feng ^a   Weng, Wen Chin ^a   Peng, Shinn Forng ^a   Wu, En Ting ^a   Huang, Pei Hsin ^a   Lee, Wang Tso ^a   Tsai, I Jun ^a   Hwu, Wuh Liang ^a   Lee, Ni Chung ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Fanconi syndrome; mitochondrial DNA deletion; pancreatitis

Indexed keywords

ARGININE; CARNITINE; MANNITOL; MITOCHONDRIAL DNA; UBIQUINONE;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; ECHOCARDIOGRAPHY; FANCONI RENOTUBULAR SYNDROME; GENE DELETION; HEALTH STATUS; HUMAN; HUMAN TISSUE; LABORATORY TEST; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; NITROGEN NUCLEAR MAGNETIC RESONANCE; PANCREATITIS; SCHOOL CHILD;

ACIDOSIS, LACTIC; BIOPSY; BRAIN DISEASES, METABOLIC; CHILD; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; FANCONI SYNDROME; GENE DELETION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL MYOPATHIES; OXIDATIVE PHOSPHORYLATION; PANCREATITIS; SEQUENCE HOMOLOGY, NUCLEIC ACID; TAIWAN;

EID: 84866103563     PISSN: 18759572     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedneo.2011.08.013     Document Type: Article

References (9)

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