FAMILIAL LYSOSOMAL STORAGE DISEASE WITH GENERALIZED VACUOLIZATION AND SIALIC ACIDURIA - SPORADIC SALLA DISEASE

被引：23

作者：

WOLBURGBUCHHOLZ, K

SCHLOTE, W

BAUMKOTTER, J

CANTZ, M

HOLDER, H

HARZER, K

机构：

[1] INST PATHOCHEM & GEN NEUROCHEM, D-6900 HEIDELBERG, GERMANY

[2] CITY HOSP, D-7030 BOBLINGEN, GERMANY

[3] INST BRAIN RES, D-7400 TUBINGEN, GERMANY

来源：

NEUROPEDIATRICS | 1985年 / 16卷 / 02期

关键词：

D O I：

10.1055/s-2008-1052546

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

收藏

页码：67 / 75

页数：9

相关论文

共 28 条

[21] STABLE THIOBARBITURIC ACID CHROMOPHORE WITH DIMETHYL-SULFOXIDE - APPLICATION TO SIALIC-ACID ASSAY IN ANALYTICAL DE-O-ACETYLATION
SKOZA, L
MOHOS, S
[J]. BIOCHEMICAL JOURNAL, 1976, 159 (03) : 457 - 462
[22] SPRANGER J, UNPUB NEURAMINIC ACI
[23] SPRANGER J, 1975, MUCOLIPIDOSIS, V1, P279
[24] STEVENSON RE, 1983, PEDIATRICS, V72, P441
[25] ALTERATIONS IN CULTURED FIBROBLASTS OF SIBS WITH AN INFANTILE FORM OF A FREE (UN-BOUND) SIALIC-ACID STORAGE DISORDER
THOMAS, GH
SCOCCA, J
LIBERT, J
VAMOS, E
MILLER, CS
REYNOLDS, LW
[J]. PEDIATRIC RESEARCH, 1983, 17 (05) : 307 - 312
[26] INFANTILE FORM OF SIALIC-ACID STORAGE DISORDER - CLINICAL, ULTRASTRUCTURAL, AND BIOCHEMICAL-STUDIES IN 2 SIBLINGS
TONDEUR, M
LIBERT, J
VAMOS, E
VANHOOF, F
THOMAS, GH
STRECKER, G
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1982, 139 (02) : 142 - 147
[27] CLINICAL, BIOCHEMICAL, AND ULTRASTRUCTURAL STUDIES IN A CASE OF CHONDRODYSTROPHY PRESENTING I-CELL PHENOTYPE IN TISSUE CULTURE
TONDEUR, M
VAMOSHUR.E
MOCKELPO.S
DEREUME, JP
CREMER, N
LOEB, H
[J]. JOURNAL OF PEDIATRICS, 1971, 79 (03) : 366 - +
[28] Van Hoof F. J., 1974, J CLIN PATHOLOGY S8, V27, P64