Multiple sulfatase deficiency.

  title={Multiple sulfatase deficiency.},
  author={B W Soong and A C Casamassima and John K. Fink and George C Constantopoulos and Allen L. Horwitz},
  volume={38 8},
Multiple sulfatase deficiency is an inherited disorder characterized by a deficiency of several sulfatases and the accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids. The clinical manifestations represent the summation of two diseases: late infantile metachromatic leukodystrophy and mucopolysaccharidosis. We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, microcephaly, and mild facial… CONTINUE READING


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