INFANTILE SIALIC-ACID STORAGE DISEASE (ISSD) IN 2 SIBS WITH SEVERE NEPHROTIC SYNDROME

被引：0
|
作者：
GRUBER, W
PASCHKE, E
RING, E
SPERL, W
STOCKLER, S
机构：
[1] GRAZ UNIV, KINDERKLIN, A-8036 GRAZ, AUSTRIA
[2] UNIV INNSBRUCK, KINDERKLIN, A-6020 INNSBRUCK, AUSTRIA
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 1987年 / 146卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：102 / 102
页数：1
相关论文
共 50 条
  • [21] ACCUMULATION OF SIALIC-ACID IN FIBROBLASTS FROM PATIENTS WITH A SIALIC-ACID STORAGE DISORDER (SALLA DISEASE)
    RENLUND, M
    AULA, P
    RAIVIO, KO
    ACTA PAEDIATRICA SCANDINAVICA, 1985, : 9 - 9
  • [22] 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
  • [23] 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
  • [24] Infantile Sialic Acid Storage Disease (ISSD): Neuropathology of Two Inuit Patients With the Novel c.526-2a>G Mutation
    Michaud, Jean
    Lines, Matthew
    Geraghty, Michael
    Baskin, Berivan
    Grynspan, David
    Nizalik, Elizabeth
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2011, 70 (06): : 544 - 544
  • [25] PRENATAL-DIAGNOSIS OF SIALIC-ACID STORAGE DISEASE
    CLEMENTS, PR
    HOPWOOD, JJ
    AUSTRALIAN PAEDIATRIC JOURNAL, 1986, 22 (04): : 346 - 346
  • [26] 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
  • [27] CLINICAL AND BIOCHEMICAL FINDINGS IN SIALIC-ACID STORAGE DISEASE
    PASCHKE, E
    ROSCHER, A
    TRINKL, G
    POKITS, B
    LEIS, HJ
    PAVELKA, M
    MUTZ, I
    EUROPEAN JOURNAL OF PEDIATRICS, 1985, 143 (03) : 243 - 243
  • [28] 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
  • [29] A Japanese case of infantile sialic acid storage disease
    Nakano, C
    Hirabayashi, Y
    Ohno, K
    Yano, T
    Mito, T
    Sakurai, M
    BRAIN & DEVELOPMENT, 1996, 18 (02): : 153 - 156
  • [30] DEFECTIVE LYSOSOMAL RELEASE OF GLYCOPROTEIN-DERIVED SIALIC-ACID IN FIBROBLASTS FROM PATIENTS WITH SIALIC-ACID STORAGE DISEASE
    MENDLA, K
    BAUMKOTTER, J
    ROSENAU, C
    ULRICHBOTT, B
    CANTZ, M
    BIOCHEMICAL JOURNAL, 1988, 250 (01) : 261 - 267
12345