SANFILIPPO TYPE-C DIAGNOSIS - ASSAY OF ACETYL-COA - ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE USING [GLUCOSAMINE-C-14 AS SUBSTRATE AND LEUKOCYTES AS ENZYME SOURCE

被引：9

作者：

PALLINI, R ^{[1
]}

LEDER, IG ^{[1
]}

DINATALE, P ^{[1
]}

机构：

[1] UNIV NAPLES,SCH MED 2,INST CELLULAR & MOLEC BIOCHEM,I-80138 NAPLES,ITALY

来源：

PEDIATRIC RESEARCH | 1984年 / 18卷 / 06期

关键词：

D O I：

10.1203/00006450-198406000-00013

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：543 / 545

页数：3

共 11 条

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HOPWOOD, JJ
ELLIOTT, H
[J]. CLINICA CHIMICA ACTA, 1981, 112 (01) : 67 - 75
[4] KLEIN U, 1981, CLIN GENET, V20, P55
[5] SANFILIPPO SYNDROME TYPE-C - DEFICIENCY OF ACETYL-COA - ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE IN SKIN FIBROBLASTS
KLEIN, U
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VONFIGURA, K
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (10) : 5185 - 5189
[6] H-3-LABELED TRISACCHARIDE FROM HEPARIN AS SUBSTRATE FOR ACETYL-COA - 2-AMINO-2-DEOXY-ALPHA-D-GLUCOSIDE N-ACETYLTRANSFERASE
KLEIN, U
VONFIGURA, K
[J]. CARBOHYDRATE RESEARCH, 1980, 78 (02) : 249 - 256
[7] KRESSE H, 1972, J BIOL CHEM, V247, P2164
[8] SANFILIPPO DISEASE TYPE-D - DEFICIENCY OF N-ACETYLGLUCOSAMINE-6-SULFATE SULFATASE REQUIRED FOR HEPARAN-SULFATE DEGRADATION
KRESSE, H
PASCHKE, E
VONFIGURA, K
GILBERG, W
FUCHS, W
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (11): : 6822 - 6826
[9] LOWRY OH, 1951, J BIOL CHEM, V193, P265
[10] SANFILIPPO SYNDROME - PROFOUND DEFICIENCY OF ALPHA-ACETYLGLUCOSAMINIDASE ACTIVITY IN ORGANS AND SKIN FIBROBLASTS FROM TYPE-B PATIENTS
OBRIEN, JS
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (07) : 1720 - &

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