Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

Journal of Inherited Metabolic Disease

Volumn 32, Issue 2, 2009, Pages 159-162

  Valayannopoulos, Vassili ^a   Hubert, L ^a   Benoist, J F ^b   Romano, S ^a   Arnoux, J B ^a   Chretien D ^a   Kaplan, J ^a   Fakhouri, F ^a   Rabier, D ^a   Rotig A ^a   Lebre, A S ^a   Munnich, A ^a   Keyzer, Y ^a   Lonlay, P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARNITINE; COBALAMIN; CYANOCOBALAMIN; HYDROXOCOBALAMIN; METHYLMALONIC ACID; STEROID; THIAMINE;

ADULT; CASE REPORT; CONFERENCE PAPER; DISEASE COURSE; DISEASE SEVERITY; DRUG MEGADOSE; DRUG RESPONSE; DRUG SENSITIVITY; HUMAN; LACTIC ACIDOSIS; MALE; METHYLMALONIC ACIDURIA; MULTIPLE ORGAN FAILURE; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PATIENT MONITORING; VISUAL IMPAIRMENT;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CITRIC ACID CYCLE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; FATAL OUTCOME; HUMANS; LIVER; MALE; METHYLMALONIC ACID; MUSCLE, SKELETAL; OXIDATIVE PHOSPHORYLATION; VITAMIN B 12;

EID: 64449084442     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1023-1     Document Type: Conference Paper

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