Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Nizon, Mathilde ^a   Ottolenghi, Chris ^a   Valayannopoulos, Vassili ^a   Arnoux, Jean Baptiste ^a   Barbier, Valérie ^a   Habarou, Florence ^a   Desguerre, Isabelle ^a   Boddaert, Nathalie ^a   Bonnefont, Jean Paul ^a   Acquaviva, Cécile ^b   Benoist, Jean François ^c   Rabier, Daniel ^a   Touati, Guy ^a   De Lonlay, Pascale ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Centre de Biologie et Pathologie Est   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Isovaleric aciduria; Long term prognosis; Methylmalonic aciduria; Mitochondrial dysfunction; Neurological evolution; Organic aciduria; Propionic aciduria

Indexed keywords

ALANINE; CREATININE; CYANOCOBALAMIN; GLUTAMINE; GLYCINE; HYDRACRYLIC ACID; ISOVALERIC ACID; ISOVALERYL COENZYME A DEHYDROGENASE; ISOVALERYLGLYCINE; METHYLCITRIC ACID; METHYLMALONIC ACID; METHYLMALONIC ACIDEMIA CBIA; METHYLMALONIC ACIDEMIA CBIB; METHYLMALONYL COENZYME A MUTASE; PROPIONIC ACID; PROPIONYL COENZYME A CARBOXYLASE; PROPIONYL COENZYME A CARBOXYLASE ALPHA SUBUNIT; PROPIONYL COENZYME A CARBOXYLASE BETA SUBUNIT; PROPIONYLGLYCINE; TIGLYGLYCINE; UNCLASSIFIED DRUG;

ABDOMINAL SURGERY; ACIDURIA; ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMNESIA; ANXIETY DISORDER; ARTICLE; ATTENTION DISTURBANCE; BASAL GANGLION; BEHAVIOR DISORDER; CARDIOMYOPATHY; CAUSE OF DEATH; CEREBELLUM ATROPHY; CHILD; CORPUS STRIATUM; CREATININE BLOOD LEVEL; DEPRESSION; EXTRAPYRAMIDAL SYNDROME; FALLING; FOLLOW UP; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; GENETIC ANALYSIS; GLOBUS PALLIDUS; HALLUCINATION; HEMOFILTRATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; ISOVALERIC ACIDURIA; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; LONG QT SYNDROME; LONG TERM CARE; MAJOR CLINICAL STUDY; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; OUTCOME ASSESSMENT; PERSONALITY DISORDER; PRESCHOOL CHILD; PROGNOSIS; PROPIONIC ACIDURIA; PSYCHOMETRY; PSYCHOSIS; PSYCHOTHERAPY; PYRAMIDAL SIGN; SCHOOL CHILD; SLEEP DISORDER; URINE LEVEL; VITAMIN SUPPLEMENTATION; WHITE MATTER;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LACTIC ACID; MALE; METHYLMALONIC ACID; PROPIONIC ACIDEMIA; YOUNG ADULT;

EID: 84884385341     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-148     Document Type: Article

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