Fetal metachromatic leukodystrophy: pathology, biochemistry and a study of in vitro enzyme replacement in CNS tissue

S. E. Poduslo; G. Tennekoon; D. Price; K. Miller; G. M. McKhann

doi:10.1093/jnen/35.6.622

Fetal metachromatic leukodystrophy: pathology, biochemistry and a study of in vitro enzyme replacement in CNS tissue

S. E. Poduslo, G. Tennekoon, D. Price, K. Miller, G. M. McKhann

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

Through prenatal screening a fetus affected with MLD was detected. The pregnancy was terminated and the brain removed at autopsy. Pathologic studies of the CNS showed inclusion bodies within oligodendroglia. The morphology of myelin was normal. Cells and myelin were isolated from the cerebrum; there was an increased level of sulfatide present in both fractions. In vitro studies of enzyme replacement in cultured MLD brain cells indicated that it may be possible to correct the abnormal sulfatide accumulation.

Original language	English (US)
Pages (from-to)	622-632
Number of pages	11
Journal	Unknown Journal
Volume	35
Issue number	6
DOIs	https://doi.org/10.1093/jnen/35.6.622
State	Published - 1976

ASJC Scopus subject areas

Pathology and Forensic Medicine
Neurology
Clinical Neurology
Cellular and Molecular Neuroscience

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abstract = "Through prenatal screening a fetus affected with MLD was detected. The pregnancy was terminated and the brain removed at autopsy. Pathologic studies of the CNS showed inclusion bodies within oligodendroglia. The morphology of myelin was normal. Cells and myelin were isolated from the cerebrum; there was an increased level of sulfatide present in both fractions. In vitro studies of enzyme replacement in cultured MLD brain cells indicated that it may be possible to correct the abnormal sulfatide accumulation.",

author = "Poduslo, {S. E.} and G. Tennekoon and D. Price and K. Miller and McKhann, {G. M.}",

year = "1976",

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T1 - Fetal metachromatic leukodystrophy

T2 - pathology, biochemistry and a study of in vitro enzyme replacement in CNS tissue

AU - Poduslo, S. E.

AU - Tennekoon, G.

AU - Price, D.

AU - Miller, K.

AU - McKhann, G. M.

PY - 1976

Y1 - 1976

N2 - Through prenatal screening a fetus affected with MLD was detected. The pregnancy was terminated and the brain removed at autopsy. Pathologic studies of the CNS showed inclusion bodies within oligodendroglia. The morphology of myelin was normal. Cells and myelin were isolated from the cerebrum; there was an increased level of sulfatide present in both fractions. In vitro studies of enzyme replacement in cultured MLD brain cells indicated that it may be possible to correct the abnormal sulfatide accumulation.

AB - Through prenatal screening a fetus affected with MLD was detected. The pregnancy was terminated and the brain removed at autopsy. Pathologic studies of the CNS showed inclusion bodies within oligodendroglia. The morphology of myelin was normal. Cells and myelin were isolated from the cerebrum; there was an increased level of sulfatide present in both fractions. In vitro studies of enzyme replacement in cultured MLD brain cells indicated that it may be possible to correct the abnormal sulfatide accumulation.

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JO - Unknown Journal

JF - Unknown Journal

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ER -

Fetal metachromatic leukodystrophy: pathology, biochemistry and a study of in vitro enzyme replacement in CNS tissue

Abstract

ASJC Scopus subject areas

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