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
  • [31] PRENATAL-DIAGNOSIS AND CONFIRMATION OF SIALIC-ACID STORAGE DISEASE
    VAMOS, E
    CANTZ, M
    LIBERT, J
    STRECKER, G
    ELKHAZEN, N
    WILKIN, P
    CLINICAL GENETICS, 1985, 28 (05) : 476 - 477
  • [32] INFANTILE FORM OF SIALIC-ACID STORAGE DISORDER - CLINICAL, ULTRASTRUCTURAL, AND BIOCHEMICAL-STUDIES IN 2 SIBLINGS
    TONDEUR, M
    LIBERT, J
    VAMOS, E
    VANHOOF, F
    THOMAS, GH
    STRECKER, G
    EUROPEAN JOURNAL OF PEDIATRICS, 1982, 139 (02) : 142 - 147
  • [33] Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene
    Zigman, Tamara
    Ramadza, Danijela Petkovic
    Lusic, Mario
    Zekusic, Marija
    Ninkovic, Dorotea
    Gardijan, Danilo
    Potocki, Kristina
    Omerza, Lana
    Beljan, Lucija
    Zarkovic, Kamelija
    Kerkhof, Jennifer
    Ljubojevic, Marija
    de Sain-van der Velden, Monique
    Vukovic, Jurica
    Fumic, Ksenija
    Sadikovic, Bekim
    Baric, Ivo
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (10): : 1155 - 1159
  • [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] CONGENITAL MICROCEPHALY, INFANTILE SPASMS, PSYCHOMOTOR RETARDATION, AND NEPHROTIC SYNDROME IN 2 SIBS
    ROOS, RAC
    MAASWINKELMOOY, PD
    VANDENLOO, EM
    KANHAI, HHH
    EUROPEAN JOURNAL OF PEDIATRICS, 1987, 146 (05) : 532 - 536
  • [36] GENERALIZED INFANTILE FORM OF THE SYNDROME OF SIALIC-ACID SURPLUS (N-ACETYLNEURAMINIC ACID) WITH SIALURIA
    CATZEFLIS, C
    BAMMATTER, C
    VANIER, MT
    DEONNA, T
    MATTHIEU, JM
    HELVETICA PAEDIATRICA ACTA, 1986, 41 (03) : 255 - 255
  • [37] A SIMPLE DETECTION OF SIALIC-ACID STORAGE DISORDERS BY URINARY FREE AND TOTAL SIALIC-ACID DETERMINATIONS
    CARDO, PP
    LOMBARDO, C
    GATTI, R
    CLINICA CHIMICA ACTA, 1985, 150 (02) : 129 - 135
  • [38] Neonatal ascites due to infantile sialic acid storage disease
    Bohnhorst, B
    Poets, CF
    Schweitzer, S
    Sewell, AC
    MONATSSCHRIFT KINDERHEILKUNDE, 1996, 144 (04) : 374 - 378
  • [39] Clinical spectrum of infantile free sialic acid storage disease
    Lemyre, E
    Russo, P
    Melançon, SB
    Gagné, R
    Potier, M
    Lambert, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 82 (05): : 385 - 391
  • [40] NEW LYSOSOMAL STORAGE DISEASE WITH INCREASED URINARY SIALIC-ACID EXCRETION
    AULA, P
    RAIVIO, K
    AUTIO, S
    THODEN, CJ
    RAPOLA, J
    KOSKELA, SL
    YAMASHINA, I
    HUMAN HEREDITY, 1977, 27 (03) : 162 - 162
12345