Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation

Brain and Development

Volumn 30, Issue 5, 2008, Pages 374-377

  Yiş, Uluç ^a   Pepe, Stefano ^b   Kurul, Semra Hiz ^a   Ballabio, Andrea ^b,c   Cosma, Maria Pia ^b   Dirik, Eray ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c Unit of Medical Genetics   (Italy)

Author keywords

Child; Ichtyosis; Psychomotor retardation; SUMF1 protein

Indexed keywords

ARYLSULFATASE; ARYLSULFATASE E; CEREBROSIDE SULFATASE; N ACETYLGALACTOSAMINE 4 SULFATASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC APPROACH ROUTE; FAMILY STUDY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLE SULFATASE DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RNA SPLICING; TURKEY (REPUBLIC); WILD TYPE;

ARGININE; ATROPHY; CEREBRAL CORTEX; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; INFANT; MULTIPLE SULFATASE DEFICIENCY DISEASE; MUTATION; SULFATASES; TURKEY;

EID: 41749099929     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.10.007     Document Type: Article

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