Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: A complicated and difficult case study

Chinese Journal of Contemporary Pediatrics

Volumn 9, Issue 3, 2007, Pages 216-219

  Zhang, Yao ^a   Sun, Fang ^a   Yang, Yan Ling ^a   Chang, Xing Zhi ^a   Qi, Yu ^a   Qi, Zhao Yue ^a   Xiao, Jiang Xi ^a   Qin, Jiong ^a   Wu, Xi Ru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Gene mutaion; Leigh syndrome; Pyruvate dehydrogenase complex E1 subunit (PDHA1); Weakness

Indexed keywords

CARBOHYDRATE; CARNITINE; CYSTEINE; PROTEIN SUBUNIT; PYRUVATE DEHYDROGENASE; THIAMINE; THREONINE; UBIDECARENONE;

AREFLEXIA; ARTICLE; AXONAL INJURY; BASAL GANGLION; BODY MOVEMENT; CASE REPORT; CASE STUDY; CHINESE; DEMYELINATING DISEASE; DIET RESTRICTION; DIET THERAPY; EXON; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LEIGH DISEASE; MALE; MENTAL DEFICIENCY; MENTAL DEVELOPMENT; METABOLIC DISORDER; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PYRUVATE DEHYDROGENASE DEFICIENCY; SCHOOL CHILD; WEAKNESS; WHITE MATTER; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HUMANS; LEIGH DISEASE; MALE; MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE);

EID: 34250625246     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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