Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Diagnostic Pathology

Volumn 6, Issue 1, 2011, Pages

  Chkioua, Latifa ^a,b   Khedhiri, Souhir ^a,b   Ben Turkia, Hadhami ^c   Chahed, Henda ^a,b,c   Ferchichi, Salima ^a,b   Ben Dridi, Marie F ^c   Laradi, Sandrine ^a,b   Miled, Abdelhedi ^a,b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c LA RABTA HOSPITAL   (Tunisia)

Author keywords

Consanguinity; Mucopolysaccharidosis type i; Mutations; Tunisian population

Indexed keywords

LEVO IDURONIDASE;

ARTICLE; CASE REPORT; CHILD; CONSANGUINITY; ENZYMOLOGY; FATALITY; FEMALE; FOLLOW UP; GENE FREQUENCY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HURLER SYNDROME; INFANT; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; TUNISIA;

CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IDURONIDASE; INFANT; MALE; MUCOPOLYSACCHARIDOSIS I; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TUNISIA;

EID: 80755143020     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-6-113     Document Type: Article

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