Article
A Patient With Atypical Multiple Sulfatase Deficiency.
Pediatric neurology - 1 Apr 2016
Miskin Chandrabhaga, Melvin Joseph J, Legido Agustin, Wenger David A, Harasink Sue Moyer, Khurana Divya S
Abstract excerpt
BACKGROUND: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: We present a 4-year-old girl with clinical findings...
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