SIALIC-ACID STORAGE DISEASE

被引：10

作者：

CAMERON, PD

DUBOWITZ, V

BESLEY, GTN

FENSOM, AH

机构：

[1] HAMMERSMITH HOSP,LONDON W12 0HS,ENGLAND

[2] ROYAL HOSP SICK CHILDREN,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

[3] GUYS & ST THOMAS HOSP,REG GENET CTR,LONDON SE1 9RT,ENGLAND

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1990年 / 65卷 / 03期

关键词：

D O I：

10.1136/adc.65.3.314

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A baby girl with coarse facial features, hepatosplenomegaly, and developmental delay had raised free sialic acid concentrations in her urine and cultured fibroblasts. She died aged 13 months. Sialic acid is an important constituent of many glycoproteins and glycolipids; impaired release from the lysosome may be the underlying biochemical defect.

引用

页码：314 / 315

页数：2

共 6 条

[1] SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER
AULA, P
AUTIO, S
RAIVIO, KO
RAPOLA, J
THODEN, CJ
KOSKELA, SL
YAMASHINA, I
[J]. ARCHIVES OF NEUROLOGY, 1979, 36 (02) : 88 - 94
[2] PRENATAL-DIAGNOSIS OF INFANTILE SIALIC-ACID STORAGE DISEASE IN A TWIN PREGNANCY
LAKE, BD
YOUNG, EP
NICOLAIDES, K
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (02) : 152 - 156
[3] LOWDEN JA, 1979, AM J HUM GENET, V31, P1
[4] STUDIES ON THE DEFECT UNDERLYING THE LYSOSOMAL STORAGE OF SIALIC-ACID IN SALLA DISEASE - LYSOSOMAL ACCUMULATION OF SIALIC-ACID FORMED FROM N-ACETYL-MANNOSAMINE OR DERIVED FROM LOW-DENSITY-LIPOPROTEIN IN CULTURED MUTANT FIBROBLASTS
RENLUND, M
KOVANEN, PT
RAIVIO, KO
AULA, P
GAHMBERG, CG
EHNHOLM, C
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1986, 77 (02) : 568 - 574
[5] STEVENSON RE, 1983, PEDIATRICS, V72, P441
[6] SIALURIA - A 2ND CASE
WILCKEN, B
DON, N
GREENAWAY, R
HAMMOND, J
SOSULA, L
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (02) : 97 - 102

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