SIALIDOSIS TYPE-I - FIRST REPORT IN THE CZECH POPULATION OF 2 SIBLINGS WITH CHERRY-RED SPOT MYOCLONUS SYNDROME BUT WITHOUT SIALYLOLIGOSACCHARIDURIA

被引:5
作者
LEDVINOVA, J
POUPETOVA, H
ELLEDER, M
TICHY, J
PENICKOVA, V
HARZER, K
机构
[1] CHARLES UNIV,CTR INHERITED METAB DIS,CR-12853 PRAGUE 2,CZECH REPUBLIC
[2] CHARLES UNIV,INST PATHOL 1,CR-12853 PRAGUE 2,CZECH REPUBLIC
[3] CHARLES UNIV,FAC MED 1,NEUROL CLIN,CR-12853 PRAGUE 2,CZECH REPUBLIC
[4] PALACKY UNIV,NEUROL CLIN,CR-77520 OLOMOUC,CZECH REPUBLIC
[5] UNIV TUBINGEN,MAX PLANCK INST HIRNFORSCH,TUBINGEN,GERMANY
关键词
D O I
10.1007/BF00735411
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:118 / 119
页数:2
相关论文
共 4 条
[1]  
BEAUDET AL, 1989, METABOLIC BASIS INHE, P1603
[2]  
HARZER K, 1986, HUM GENET, V74, P209
[3]   ADDITIONAL BIOCHEMICAL FINDINGS IN A PATIENT AND FETAL SIBLING WITH A GENETIC-DEFECT IN THE SPHINGOLIPID ACTIVATOR PROTEIN (SAP) PRECURSOR, PROSAPOSIN - EVIDENCE FOR A DEFICIENCY IN SAP-1 AND FOR A NORMAL LYSOSOMAL NEURAMINIDASE [J].
PATON, BC ;
SCHMID, B ;
KUSTERMANNKUHN, B ;
POULOS, A ;
HARZER, K .
BIOCHEMICAL JOURNAL, 1992, 285 :481-488
[4]   SYNTHESIS OF 2'-(4-METHYLUMBELLIFERYL)-ALPHA-D-N-ACETYLNEURAMINIC ACID AND DETECTION OF SKIN FIBROBLAST NEURAMINIDASE IN NORMAL HUMANS AND IN SIALIDOSIS [J].
WARNER, TG ;
OBRIEN, JS .
BIOCHEMISTRY, 1979, 18 (13) :2783-2787