GM1 GANGLIOSIDOSIS (LANDING DISEASE)

被引：16

作者：

HOOFT, C

SENESAEL, L

DELBEKE, MJ

KINT, J

DACREMONT, G

机构：

[1] Pediatric Clinic of the State University of Gent, Gent

来源：

EUROPEAN NEUROLOGY | 1969年 / 2卷 / 04期

关键词：

D O I：

10.1159/000113798

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

At the age of nine months, a girl was seen with mental and motor retardation. She had a peculiar facies and multiple little telangiectases. On ophthalmological examination bilateral cherry red spots were found. The radiological examination revealed beaked, hypoplastic lumbal vertebrae. Vacuolated lymphocytes, foamcells and osteoblastic cells were seen on hematological examination. In the gray matter of the brain biopsy a storage of Gm1rganglioside fraction and an obvious decreased β-galactosidase activity were found. © 1969 S. Karger AG, Basel.

引用

页码：225 / +

页数：1

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