Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.

doi:10.3928/0191-3913-19840701-04

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Article

Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.

Journal of pediatric ophthalmology and strabismus - 1 Jan 2000

Bateman J B, Philippart M, Isenberg S J

Abstract excerpt

Multiple sulfatase deficiency, a newly recognized autosomal recessive disorder caused by a deficiency of several sulfatase enzymes, is characterized by psychomotor retardation, ichthyosis, and mild organomegaly. Patients with metachromatic leukodystrophy, also an autosomal recessive disorder, hav...

Topics

Cataract
Eye Diseases
Female
Humans
Infant
Leukodystrophy, Metachromatic
Male
Mutation
Retinal Degeneration
Sulfatases

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