Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia

Human Molecular Genetics

Volumn 23, Issue 18, 2014, Pages 5009-5016

  Houten, Sander M ^a,d   Denis, Simone ^a   Te Brinke, Heleen ^a   Jongejan, Aldo ^a   Van Kampen, Antoine H C ^a   Bradley, Edward J ^a   Baas, Frank ^a   Hennekam, Raoul C M ^a   Millington, David S ^b   Young, Sarah P ^b   Frazier, Dianne M ^c   Gucsavas Calikoglu, Muge ^c   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2,4-DIENOYL-COA REDUCTASE; MITOCHONDRIAL PROTEIN; NADK2 PROTEIN, HUMAN; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; OXIDOREDUCTASE; PHOSPHOTRANSFERASE;

CASE REPORT; DEFICIENCY; DNA SEQUENCE; FIBROBLAST; GENETICS; HUMAN; HYPERLYSINEMIA; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGICAL STRESS;

FIBROBLASTS; HUMANS; HYPERLYSINEMIAS; MITOCHONDRIAL PROTEINS; MUTATION; NADP; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEQUENCE ANALYSIS, DNA; STRESS, PHYSIOLOGICAL;

EID: 84906836553     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu218     Document Type: Article

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