FREE SIALIC-ACID STORAGE DISEASE - A NEW ITALIAN CASE

被引:20
作者
FOIS, A [1 ]
BALESTRI, P [1 ]
FARNETANI, MA [1 ]
MANCINI, GMS [1 ]
BORGOGNI, P [1 ]
MARGOLLICCI, MA [1 ]
MOLINELLI, M [1 ]
ALESSANDRINI, C [1 ]
GERLI, R [1 ]
机构
[1] UNIV SIENA, IST ISTOL & EMBRIOL GEN, I-53100 SIENA, ITALY
关键词
D O I
10.1007/BF02343235
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:195 / 198
页数:4
相关论文
共 22 条
  • [1] SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER
    AULA, P
    AUTIO, S
    RAIVIO, KO
    RAPOLA, J
    THODEN, CJ
    KOSKELA, SL
    YAMASHINA, I
    [J]. ARCHIVES OF NEUROLOGY, 1979, 36 (02) : 88 - 94
  • [2] BAUMKOTTER J, 1985, HUM GENET, V71, P155
  • [3] FONTAINE G, 1968, HELV PAEDIATR ACTA, V23, P1
  • [4] GENERALIZED N-ACETYLNEURAMINIC ACID STORAGE DISEASE - QUANTITATION AND IDENTIFICATION OF THE MONOSACCHARIDE ACCUMULATING IN BRAIN AND OTHER TISSUES
    HANCOCK, LW
    THALER, MM
    HORWITZ, AL
    DAWSON, G
    [J]. JOURNAL OF NEUROCHEMISTRY, 1982, 38 (03) : 803 - 809
  • [5] N-ACETYLNEURAMINIC ACID AND SIALOGLYCOCONJUGATE METABOLISM IN FIBROBLASTS FROM A PATIENT WITH GENERALIZED N-ACETYLNEURAMINIC ACID STORAGE DISEASE
    HANCOCK, LW
    HORWITZ, AL
    DAWSON, G
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 760 (01) : 42 - 52
  • [6] LYSOSOMAL EFFLUX OF FREE SIALIC-ACID - IMPLICATIONS FOR SALLA DISEASE
    JONAS, AJ
    HULS, MH
    [J]. PEDIATRIC RESEARCH, 1985, 19 (04) : A313 - A313
  • [7] LOWDEN JA, 1979, AM J HUM GENET, V31, P1
  • [8] MANCINI GMS, 1986, IN PRESS HUM GENET
  • [9] A THIN-LAYER CHROMATOGRAPHIC TECHNIQUE FOR SCREENING FOR SIALURIA
    MICHALSKI, JC
    MONTREUIL, J
    STRECKER, G
    [J]. CLINICA CHIMICA ACTA, 1983, 129 (01) : 99 - 101
  • [10] HYPEREXCRETION OF FREE N-ACETYLNEURAMINIC ACID - A NOVEL TYPE OF SIALURIA
    PALO, J
    RAUVALA, H
    FINNE, J
    HALTIA, M
    PALMGREN, K
    [J]. CLINICA CHIMICA ACTA, 1985, 145 (03) : 237 - 242