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
  • [41] GENERALIZED SIALIC-ACID STORAGE DISEASE
    HORWITZ, AL
    HANCOCK, L
    DAWSON, G
    THALER, MM
    PEDIATRIC RESEARCH, 1981, 15 (04) : 563 - 563
  • [42] Lymphocytic vacuolization in sialic acid storage disease
    Kuskonmaz, Baris
    Unal, Sule
    Cordukcu, Emine
    Aydin, Halil
    Coskun, Turgay
    Gurgey, Aytemiz
    Gumruk, Fatma
    AMERICAN JOURNAL OF HEMATOLOGY, 2008, 83 (10) : 821 - 821
  • [43] Sialic acid storage disease and related disorders
    Strehle, EM
    GENETIC TESTING, 2003, 7 (02): : 113 - 121
  • [44] LYSOSOMAL STORAGE OF FREE SIALIC-ACID - CLINICAL AND BIOCHEMICAL FINDINGS ON A CASE WITH SEVERE INFANTILE COURSE FORM
    PASCHKE, E
    ROSCHER, A
    MUTZ, I
    LEIS, HJ
    POKITS, B
    PAWELKA, M
    HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1984, 365 (09): : 937 - 937
  • [45] Free Sialic Acid Storage Disease without Sialuria
    Mochel, Fanny
    Yang, Bingzhi
    Barritault, Julie
    Thompson, Jerry N.
    Engelke, Udo F. H.
    McNeill, Nathan H.
    Benko, William S.
    Kaneski, Christine R.
    Adams, David R.
    Tsokos, Maria
    Abu-Asab, Mones
    Huizing, Marjan
    Seguin, Francois
    Wevers, Ron A.
    Ding, Jiahuan
    Verheijen, Frans W.
    Schiffmann, Raphael
    ANNALS OF NEUROLOGY, 2009, 65 (06) : 753 - 757
  • [46] Free sialic acid storage (Salla) disease in Sweden
    Erikson, A
    Aula, N
    Aula, P
    Månsson, JE
    ACTA PAEDIATRICA, 2002, 91 (12) : 1324 - 1327
  • [47] LYSOSOMAL FREE SIALIC-ACID STORAGE DISORDERS WITH DIFFERENT PHENOTYPIC PRESENTATIONS - INFANTILE-FORM SIALIC-ACID STORAGE DISEASE AND SALLA DISEASE - REPRESENT ALLELIC DISORDERS ON 6Q14-15
    SCHLEUTKER, J
    LEPPANEN, P
    MANSSON, JE
    ERIKSON, A
    WEISSENBACH, J
    PELTONEN, L
    AULA, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 893 - 901
  • [48] Infantile Refsum disease: Case report
    Choksi, V
    Hoeffner, E
    Karaarslan, E
    Yalcinkaya, C
    Cakirer, S
    AMERICAN JOURNAL OF NEURORADIOLOGY, 2003, 24 (10) : 2082 - 2084
  • [49] INFANTILE PHYTANIC ACID STORAGE DISEASE - A VARIANT OF REFSUM DISEASE
    BOLTSHAUSER, E
    SPYCHER, MA
    STEINMANN, B
    BRINER, J
    ISLER, W
    KUSTER, T
    POULOS, A
    POLLARD, AC
    EUROPEAN JOURNAL OF PEDIATRICS, 1982, 139 (04) : 317 - 317
  • [50] Neuraminidase deficiency presenting as a nephrosialidosis: The first case detected in Poland
    TylkiSzymanska, A
    Lugowska, A
    Czartoryska, B
    ACTA PAEDIATRICA JAPONICA, 1996, 38 (05): : 529 - 532
12345