FREE SIALIC-ACID STORAGE DISEASE - A NEW ITALIAN CASE

被引：21

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

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1987年 / 146卷 / 02期

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

页码：195 / 198

页数：4

共 22 条

[1] SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER [J].

AULA, P ;

AUTIO, S ;

RAIVIO, KO ;

RAPOLA, J ;

THODEN, CJ ;

KOSKELA, SL ;

YAMASHINA, I .

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 [J].

HANCOCK, LW ;

THALER, MM ;

HORWITZ, AL ;

DAWSON, G .

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 [J].

HANCOCK, LW ;

HORWITZ, AL ;

DAWSON, G .

BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 760 (01) :42-52

[6] LYSOSOMAL EFFLUX OF FREE SIALIC-ACID - IMPLICATIONS FOR SALLA DISEASE [J].

JONAS, AJ ;

HULS, MH .

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 [J].

MICHALSKI, JC ;

MONTREUIL, J ;

STRECKER, G .

CLINICA CHIMICA ACTA, 1983, 129 (01) :99-101

[10] HYPEREXCRETION OF FREE N-ACETYLNEURAMINIC ACID - A NOVEL TYPE OF SIALURIA [J].

PALO, J ;

RAUVALA, H ;

FINNE, J ;

HALTIA, M ;

PALMGREN, K .

CLINICA CHIMICA ACTA, 1985, 145 (03) :237-242

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