Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

Molecular Genetics and Metabolism

Volumn 95, Issue 1-2, 2008, Pages 107-109

  Cosson, M A ^a   Touati, G ^a   Lacaille, F ^a   Valayannnopoulos, V ^a   Guyot, C ^c,d   Guest, G ^a   Verkarre, V ^a   Chretien D ^b   Rabier, D ^a   Munnich, A ^b   Benoist, J F ^c   de Keyzer, Y ^b   Niaudet, P ^a   de Lonlay, P ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d Hopital Mere Enfant CHU de Nantes   (France)

Author keywords

Kidney transplantation; Liver hepatoblastoma; Methylmalonic aciduria; Respiratory chain deficiency

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTINEOPLASTIC AGENT; ASPARTATE AMINOTRANSFERASE; CREATININE; GLUCOSE; GROWTH HORMONE; LACTIC ACID; METHYLMALONYL COENZYME A MUTASE;

ACIDURIA; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOPSY; CANCER CHEMOTHERAPY; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID; CHEMICAL ANALYSIS; CHILD; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DIAGNOSTIC PROCEDURE; DIALYSIS; DISEASE DURATION; DISEASE EXACERBATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG WITHDRAWAL; DYSARTHRIA; ENZYME ACTIVITY; EXTRAPYRAMIDAL SYNDROME; FOLLOW UP; GLUCOSE BLOOD LEVEL; HEPATOBLASTOMA; HEPATOMEGALY; HOSPITAL ADMISSION; HUMAN; HUMAN CELL CULTURE; IMMUNOSUPPRESSIVE TREATMENT; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LEIGH DISEASE; LIVER CANCER; MALE; MENTAL DETERIORATION; METABOLIC DISORDER; METABOLIC PARAMETERS; METHYLMALONIC ACIDURIA; MULTIPLE OXIDATION PHOSPHORYLATION DEFICIENCY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRAMIDAL SIGN; RESPIRATORY CHAIN; SKIN CULTURE; SKIN FIBROBLAST; STRABISMUS; TREATMENT DURATION;

CELLS, CULTURED; CHILD; ELECTRON TRANSPORT; FATAL OUTCOME; FIBROBLASTS; FOLLOW-UP STUDIES; HEPATOBLASTOMA; HUMANS; IMMUNOSUPPRESSIVE AGENTS; KIDNEY; KIDNEY TRANSPLANTATION; LIPID METABOLISM, INBORN ERRORS; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION;

EID: 51649100173     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.06.007     Document Type: Article

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