Ataxia with vitamin E deficiency associated with deafness

Turkish Journal of Pediatrics

Volumn 50, Issue 5, 2008, Pages 471-475

  Kara, Bülent ^a,b   Üzümcü, Abdullah ^a   Uyguner, Oya ^a   Rosti, Rasim Ozgür ^a   Koçbaş, Ayça ^a   Özmen, Meral ^a   Kayserili, Hülya ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b KOCAELI UNIVERSITY   (Turkey)

Author keywords

tocopherol transfer protein; Ataxia with vitamin E deficiency (AVED); Autosomal recessive neurodegenerative ataxias; Deafness

Indexed keywords

ALPHA TOCOPHEROL; ALPHA TOCOPHEROL TRANSFER PROTEIN; CARRIER PROTEIN; UNCLASSIFIED DRUG; ALPHA-TOCOPHEROL TRANSFER PROTEIN; MESSENGER RNA;

ADOLESCENT; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; ATAXIA WITH ALPHA TOCOPHEROL DEFICIENCY; AUDIOMETRY; CASE REPORT; CHILD; EARLY DIAGNOSIS; FEMALE; FOLLOW UP; GENE DELETION; HUMAN; HUMAN CELL; PERCEPTION DEAFNESS; SCHOOL CHILD; TURKEY (REPUBLIC); VITAMIN SUPPLEMENTATION; AMINO ACID SEQUENCE; BLOOD; GENETICS; HEARING IMPAIRMENT; PHENOTYPE; POLYMERASE CHAIN REACTION;

ADOLESCENT; AMINO ACID SEQUENCE; ATAXIA; CARRIER PROTEINS; DEAFNESS; FEMALE; HUMANS; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; VITAMIN E; VITAMIN E DEFICIENCY;

EID: 58149373393     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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