Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment

European Journal of Paediatric Neurology

Volumn 16, Issue 2, 2012, Pages 203-205

  Rosa, M ^a   Pascarella, A ^a   Parenti, G ^a   Buono, S ^b   Romano, A ^a   Della Casa, R ^a   Andria, G ^a   Marino, M ^c   Riccio, M P ^c   Bravaccio, C ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Assessment scale of mental development Griffiths; Multiple acyl coenzymeA dehydrogenase deficiency; Psychomotor development; Riboflavin

Indexed keywords

ACYLCARNITINE; ADIPIC ACID; ALANINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BICARBONATE; CARNITINE; CYTOKERATIN; GLUCOSE POLYMER; GLUTARIC ACID; HEXANOIC ACID; METHYLMALONIC ACID; PROLINE; RIBOFLAVIN; SEBACIC ACID; UBIQUINONE; VALINE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BIOCHEMISTRY; CASE REPORT; CHILD; CLINICAL ASSESSMENT TOOL; CLINICAL FEATURE; COGNITION; DEVELOPMENTAL DISORDER; DISEASE COURSE; EVOLUTION; EYE HAND COORDINATION; FATTY ACID BLOOD LEVEL; GENERAL CONDITION IMPROVEMENT; HEARING; HISTOLOGY; HUMAN; HYPOGLYCEMIA; INFANT; INTELLECT; LANGUAGE ABILITY; LIPID STORAGE; LOCOMOTION; MALE; METABOLIC ACIDOSIS; MOTOR PERFORMANCE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE TONE; OUTCOME ASSESSMENT; PERSONALITY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOMOTOR DEVELOPMENT; SOCIAL BEHAVIOR; TANDEM MASS SPECTROMETRY; TREATMENT DURATION; URINALYSIS; URINARY EXCRETION; WEAKNESS;

ACIDOSIS; ACYL-COA DEHYDROGENASE; AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; CHILD DEVELOPMENT; HEARING; HUMANS; HYPOGLYCEMIA; INFANT; LANGUAGE DEVELOPMENT; MALE; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; NEUROPSYCHOLOGICAL TESTS; PSYCHOMOTOR PERFORMANCE; RIBOFLAVIN; SOCIAL BEHAVIOR; TANDEM MASS SPECTROMETRY; UBIQUINONE; VITAMINS;

EID: 84860403082     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.07.003     Document Type: Article

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