Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 671-676

  Hertecant, Jozef L ^a   Ben Rebeh, Imen ^b   Marah, Muhaned A ^c   Abbas, Thikra ^c   Ayadi, Leila ^d   Ben Salem, Salma ^b   Al Jasmi, Fatma A ^b   Al Gazali, Lihadh ^b   Al Yahyaee, Said A ^e   Ali, Bassam R ^b  

^a TAWAM HOSPITAL   (United Arab Emirates)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^c AL AIN HOSPITAL   (United Arab Emirates)

^d CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^e SULTAN QABOOS UNIVERSITY   (Oman)

Author keywords

Isovaleric acidemia; Isovaleryl CoA dehydrogenase; IVA; IVD

Indexed keywords

ISOVALERYL COENZYME A DEHYDROGENASE;

ACIDEMIA; ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CLINICAL EVALUATION; COMPUTATIONAL FLUID DYNAMICS; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; ISOVALERIC ACIDEMIA; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PHENOTYPE; RNA SPLICING; UNITED ARAB EMIRATES;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EXONS; FEMALE; HUMANS; HYDROGEN BONDING; ISOVALERYL-COA DEHYDROGENASE; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; RNA SPLICE SITES; UNITED ARAB EMIRATES;

EID: 84869877679     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.001     Document Type: Article

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