ASPARTYLGLUCOSAMINURIA - PSYCHOMOTOR RETARDATION MASQUERADING AS A MUCOPOLYSACCHARIDOSIS

被引：28

作者：

ISENBERG, JN ^{[1
]}

SHARP, HL ^{[1
]}

机构：

[1] UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA

来源：

JOURNAL OF PEDIATRICS | 1975年 / 86卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(75)80355-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：713 / 717

页数：5

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[5]

ISENBERG JI, TO BE PUBLISHED

[6] THIN-LAYER CHROMATOGRAPHIC DEMONSTRATION OF ASPARTYLGLYCOSYLAMINE AND A NOVEL ACIDIC CARBOHYDRATE IN HUMAN TISSUES [J].

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[7] ASPARTYLGLUCOSAMINURIA .2. BIOCHEMICAL STUDIES ON BRAIN, LIVER, KIDNEY AND SPLEEN [J].

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[8]

PALO J, 1970, J MENT DEFIC RES, V14, P168

[9]

POLLITT RJ, 1968, LANCET, V2, P253

[10] ENZYMATIC CLEAVAGE OF 2-ACETAMIDO-I-(BETA'-L-ASPARTAMIDO)-I,2-DIDEOXY-BETA-D-GLUCOSE BY HUMAN PLASMA AND SEMINAL FLUID . FAILURE TO DETECT HETEROZYGOUS STATE FOR ASPARTYLGLYCOSAMINURIA [J].

POLLITT, RJ ;

JENNER, FA .

CLINICA CHIMICA ACTA, 1969, 25 (03) :413-&

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