Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: The clinical relevance of an early diagnosis and report of four new cases

Journal of Inherited Metabolic Disease

Volumn 34, Issue 3, 2011, Pages 835-842

  Martins, Esmeralda ^a   Cardoso, M Luis ^b   Rodrigues, Esmeralda ^c   Barbot, Clara ^a   Ramos, Altina ^d   Bennett, Michael J ^e   Teles, Elisa Leão ^c   Vilarinho, Laura ^d  

^a HOSPITAL MARIA PIA   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d NATIONAL INSTITUTE OF HEALTH   (Portugal)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; CARBAMAZEPINE; DIAZOXIDE; GENOMIC DNA; GLUCOSE; SHORT CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CAUCASIAN; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DRUG WITHDRAWAL; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAM; ENZYME ANALYSIS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; GENE DELETION; GESTATIONAL AGE; GRAND MAL SEIZURE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; KARYOTYPE 46,XY; LEUKOCYTE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; PYRAMIDAL SIGN; SHORT CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; SPLICING DEFECT;

EID: 79959771790     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9287-7     Document Type: Article

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