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：

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

页码：67 / 75

页数：9

共 28 条

[11] LOWDEN JA, 1979, AM J HUM GENET, V31, P1
[12] I-CELL DISEASE (MUCOLIPIDOSIS-II) - REPORT ON ITS PATHOLOGY
MARTIN, JJ
LEROY, JG
FARRIAUX, JP
FONTAINE, G
DESNICK, RJ
CABELLO, A
[J]. ACTA NEUROPATHOLOGICA, 1975, 33 (04) : 285 - 305
[13] MCKUSICK VA, 1978, METABOLIC BASIS INHE, P1282
[14] SPECIFICITY STUDIES ON THE OLIGOSACCHARIDE NEURAMINIDASE OF HUMAN-FIBROBLASTS
MENDLA, K
CANTZ, M
[J]. BIOCHEMICAL JOURNAL, 1984, 218 (02) : 625 - 628
[15] MERIN S, 1975, INVEST OPHTH VISUAL, V14, P437
[16] QUIGLEY HA, 1971, INVEST OPHTH VISUAL, V10, P568
[17] INCREASED URINARY-EXCRETION OF FREE N-ACETYLNEURAMINIC ACID IN 13 PATIENTS WITH SALLA DISEASE
RENLUND, M
CHESTER, MA
LUNDBLAD, A
AULA, P
RAIVIO, KO
AUTIO, S
KOSKELA, SL
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1979, 101 (01): : 245 - 250
[18] SALLA DISEASE - A NEW LYSOSOMAL STORAGE DISORDER WITH DISTURBED SIALIC-ACID METABOLISM
RENLUND, M
AULA, P
RAIVIO, KO
AUTIO, S
SAINIO, K
RAPOLA, J
KOSKELA, SL
[J]. NEUROLOGY, 1983, 33 (01) : 57 - 66
[19] RENLUND M, 1983, EUR J BIOCHEM, V130, P39
[20] SCHAUER R, 1982, SIALIC ACIDS CHEM ME, P77