A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

Brain and Development

Volumn 35, Issue 7, 2013, Pages 675-680

  Celato, Andrea ^a   Mitola, Chiara ^a   Tolve, Manuela ^b,c   Giannini, Maria Teresa ^a   De Leo, Sabrina ^a   Carducci, Claudia ^b,c   Carducci, Carla ^b   Leuzzi, Vincenzo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Malonic aciduria; Malonyl CoA decarboxylase deficiency; Malonylcarnitine (C3DC); Methylmalonylcarnitine (C4DC); Organic acidurias

Indexed keywords

CARNITINE; LONG CHAIN TRIACYLGLYCEROL; MALONYLCARNITINE; MEDIUM CHAIN TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CARBOHYDRATE DIET; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; DIET THERAPY; EARLY DIAGNOSIS; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; LANGUAGE DELAY; LOW FAT DIET; MALE; MALONIC ACIDURIA; MISSENSE MUTATION; MLYCD GENE; NEWBORN SCREENING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; URINARY EXCRETION;

CARBOXY-LYASES; CHILD, PRESCHOOL; EARLY DIAGNOSIS; HUMANS; INFANT, NEWBORN; MALE; MALONYL COENZYME A; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; NEONATAL SCREENING;

EID: 84879460918     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.10.014     Document Type: Article

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