Infantile progressive hepatoencephalomyopathy with combined OXPHOS deficiency due to mutations in the mitochondrial translation elongation factor gene GFM1

JIMD Reports

Volumn 5, Issue , 2012, Pages 113-122

  Balasubramaniam, S ^a,b   Choy, Y S ^c   Talib, A ^a   Norsiah, M D ^d   van den Heuvel, L P ^e,f   Rodenburg, R J ^e  

^a HOSPITAL KUALA LUMPUR   (Malaysia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c Prince Court Medical Centre ^*  (Malaysia)

^d INSTITUTE FOR MEDICAL RESEARCH   (Malaysia)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Depletion syndrome; Mitochondrial protein synthesis; Mitochondrial translation; Multicystic kidney; Oxphos system

Indexed keywords

EID: 84897042186     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_107     Document Type: Chapter

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