Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.

doi:10.1016/s0009-9120(97)00033-7

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Article

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.

Clinical biochemistry - 1 Jun 1997

Lugowska A, Tylki-Szymańska A, Berger J, Molzer B

Abstract excerpt

OBJECTIVE: Use of sulfatide excretion in differentiating MLD/PD-heterozygotes from MLD-patients and PD/PD-homozygotes. DESIGN AND METHODS: Sulfatide was extracted from urine sediment with chlorotom/methanol (2:1, v/v). The quantity of sulfatide was measured densitometrically (lambda = 580 nm) aft...

Topics

Adolescent
Adult
Alleles
Cerebroside-Sulfatase
Child
Child, Preschool
Diagnosis, Differential
Female
Heterozygote
Humans
Infant
Leukodystrophy, Metachromatic
Male
Middle Aged
Sulfoglycosphingolipids

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