Infantile sialic acid storage disease (ISSD):: Report of the first case detected in Poland

被引：1
|
作者：
Tylki-Szymánska, A
Czartoryska, B
Lugowska, A
Verheijen, FW
Mancini, GMS
Rokicki, D
Taybert, J
Chmielínska, E
机构：
[1] Childrens Mem Hlth Inst, Dept Metab Dis, PL-04730 Warsaw, Poland
[2] Inst Psychiat & Neurol, Dept Genet, Warsaw, Poland
[3] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[4] Childrens Mem Hlth Inst, Dept Genet, Warsaw, Poland
来源：
PEDIATRICS INTERNATIONAL | 2003年 / 45卷 / 02期
关键词：
infantile sialic acid storage disease; sialic acid; lysosomal membrane defect;
D O I：
10.1046/j.1442-200X.2003.01693.x
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：199 / 200
页数：2
相关论文
共 50 条
  • [31] SIALIC-ACID STORAGE DISEASE WITH SIALURIA - CLINICAL AND BIOCHEMICAL FEATURES IN THE SEVERE INFANTILE TYPE
    STEVENSON, RE
    LUBINSKY, M
    TAYLOR, HA
    WENGER, DA
    SCHROER, RJ
    OLMSTEAD, PM
    PEDIATRICS, 1983, 72 (04) : 441 - 449
  • [32] SIALIC-ACID STORAGE DISEASE
    CAMERON, PD
    DUBOWITZ, V
    BESLEY, GTN
    FENSOM, AH
    ARCHIVES OF DISEASE IN CHILDHOOD, 1990, 65 (03) : 314 - 315
  • [33] Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis
    Kang, Eungu
    Kim, Yoon-Myung
    Heo, Sun Hee
    Jung, Euiseok
    Kim, Ki-Soo
    Yoo, Hyun Ju
    Kim, Eun Na
    Kim, Chong Jai
    Kim, Gu-Hwan
    Lee, Beom Hee
    CLINICA CHIMICA ACTA, 2018, 482 : 199 - 202
  • [34] FREE SIALIC-ACID STORAGE DISEASE - A NEW ITALIAN CASE
    FOIS, A
    BALESTRI, P
    FARNETANI, MA
    MANCINI, GMS
    BORGOGNI, P
    MARGOLLICCI, MA
    MOLINELLI, M
    ALESSANDRINI, C
    GERLI, R
    EUROPEAN JOURNAL OF PEDIATRICS, 1987, 146 (02) : 195 - 198
  • [35] DEFECTIVE LYSOSOMAL EGRESS OF FREE SIALIC-ACID (N-ACETYLNEURAMINIC ACID) IN FIBROBLASTS OF PATIENTS WITH INFANTILE FREE SIALIC-ACID STORAGE DISEASE
    TIETZE, F
    SEPPALA, R
    RENLUND, M
    HOPWOOD, JJ
    HARPER, GS
    THOMAS, GH
    GAHL, WA
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1989, 264 (26) : 15316 - 15322
  • [36] INFANTILE SIALIC-ACID STORAGE DISEASE - A RARE CAUSE OF CYTOPLASMIC VACUOLATION IN PEDIATRIC-PATIENTS
    HALE, LP
    VANDEVEN, CJM
    WENGER, DA
    BRADFORD, WD
    KAHLER, SG
    PEDIATRIC PATHOLOGY & LABORATORY MEDICINE, 1995, 15 (03): : 443 - 453
  • [37] Infantile sialic acid storage disease diagnosed by gas chromatography mass spectroscopy analyses of urine sample
    Stankovics, J
    Molnar, D
    Burus, I
    Pinter, Z
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (05) : 728 - 729
  • [38] Correction of cystine storage in cystinotic fibroblasts and sialic acid storage in ISSD fibroblasts by vesicles derived from Sf9 cells
    Witcher, Marc J.
    Mullet, Jodi
    Thoene, Jess
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (03) : 321 - 321
  • [39] DEFECTIVE GLUCURONIC-ACID TRANSPORT FROM LYSOSOMES OF INFANTILE FREE SIALIC-ACID STORAGE DISEASE FIBROBLASTS
    BLOM, HJ
    ANDERSSON, HC
    SEPPALA, R
    TIETZE, F
    GAHL, WA
    BIOCHEMICAL JOURNAL, 1990, 268 (03) : 621 - 625
  • [40] Infantile Onset Glycogen Storage Disease Type 2: Case Report
    Koca, Serkan Bilge
    Polat, Emine
    Bayram, Bahtisen
    Urel, Gizem
    Senel, Saliha
    Okur, Ilyas
    GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, 2014, 12 (02): : 131 - 134
12345