Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

European Journal of Pediatrics

Volumn 166, Issue 3, 2007, Pages 229-234

  De Vries, Maaike C ^a   Rodenburg, Richard J ^a   Morava, Eva ^a   Van Kaauwen, Edwin P M ^a   Ter Laak, Henk ^a   Mullaart, Reinier A ^a   Snoeck, Irina N ^b   Van Hasselt, Peter M ^c   Harding, Peter ^d   Van Den Heuvel, Lambert P W ^a   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b JULIANA CHILDREN S HOSPITAL   (Netherlands)

^c Academic Medical Centre Utrecht   (Netherlands)

^d KLINIKUM OLDENBURG   (Germany)

Author keywords

Combined OXPHOS deficiencies; Mitochondrial medicine; POLG1

Indexed keywords

MITOCHONDRIAL DNA;

ALPERS DISEASE; ARTICLE; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FIBROBLAST; GENE; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LIVER DYSFUNCTION; MALE; MITOCHONDRIAL DNA DEPLETION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; OXIDATIVE PHOSPHORYLATION; POLYMERASE GAMMA GENE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RESPIRATORY CHAIN;

DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA MUTATIONAL ANALYSIS; DNA-DIRECTED DNA POLYMERASE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; MITOCHONDRIAL DISEASES;

EID: 33847612847     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0234-9     Document Type: Article

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