Multiple sulfatase deficiency: A case series of four children

Annals of Indian Academy of Neurology

Volumn 16, Issue 4, 2013, Pages 720-722

  Incecik, Faruk ^a   Ozbek, Mehmet N ^b   Gungor, Serdal ^c   Pepe, Stefano ^d   Herguner, Ozlem M ^a   Mungan, Neslihan Onenli ^a   Gungor, Sabiha ^c   Altunbasak, Sakir ^a  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b Diyarbakir Children Hospital   (Turkey)

^c INONU UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^d Telethon Institute of Genetics and Medicine   (Turkey)

Author keywords

Child; multiple sulfatase deficiency; sulfatase modifying factor 1 gene

Indexed keywords

ANTICONVULSIVE AGENT; CEREBROSIDE SULFATASE; IDURONATE 2 SULFATASE; N ACETYLGALACTOSAMINE 4 SULFATASE;

AMINO ACID SUBSTITUTION; ARTICLE; BABINSKI REFLEX; CASE REPORT; CHILD; CHILDHOOD DISEASE; COARSE FACE; DEVELOPMENTAL DISORDER; DISEASE DURATION; ELECTROENCEPHALOGRAM; ENZYMATIC ASSAY; EPILEPSY; FEMALE; HEART ATRIUM SEPTUM DEFECT; HEPATOSPLENOMEGALY; HOSPITAL ADMISSION; HUMAN; HURLER SYNDROME; HYPERTRICHOSIS; ICHTHYOSIS; INFANT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MULTIPLE SULFATASE DEFICIENCY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; REFLEX DISORDER; SCOLIOSIS; SEIZURE; TENDON REFLEX; WHITE MATTER LESION;

EID: 84887602772     PISSN: 09722327     EISSN: 19983549     Source Type: Journal    
DOI: 10.4103/0972-2327.120449     Document Type: Article

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