VARIATION IN PHENOTYPIC EXPRESSION OF BETA-GLUCURONIDASE DEFICIENCY

被引：83

作者：

BEAUDET, AL

DIFERRANTE, NM

FERRY, GD

NICHOLS, BL

MULLINS, CE

机构：

[1] BAYLOR UNIV, COLL MED, DEPT BIOCHEM, HOUSTON, TX 77025 USA

[2] BAYLOR UNIV, COLL MED, DEPT PEDIAT, HOUSTON, TX 77025 USA

[3] BAYLOR UNIV, COLL MED, DEPT MED, HOUSTON, TX 77025 USA

来源：

JOURNAL OF PEDIATRICS | 1975年 / 86卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(75)80968-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：388 / 394

页数：7

共 14 条

[1] X-RAY-DIFFRACTION PATTERNS FROM CHONDROITIN 4-SULFATE, DERMATAN SULFATE AND HEPARAN SULFATE [J].

ATKINS, EDT ;

LAURENT, TC .

BIOCHEMICAL JOURNAL, 1973, 133 (03) :605-+

[2]

BEAUDET AL, IN PRESS

[3]

CAFFEY J, 1952, AM J ROENTGENOL, V67, P715

[4]

DIFERRANTE N, 1972, CONNECTIVE TISSUE RE, V1, P93

[5]

DIFERRANTE NM, 1969, BIRTH DEFECTS, V9, P31

[6] DEFECT IN HURLERS AND HUNTERS SYNDROMES - FAULTY DEGRADATION OF MUCOPOLYSACCHARIDE [J].

FRATANTONI, JC ;

HALL, CW ;

NEUFELD, EF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1968, 60 (02) :699-+

[7]

GLASER JH, 1973, J LAB CLIN MED, V82, P969

[8] BETA-GLUCURONIDASE DEFICIENCY MUCOPOLYSACCHARIDOSIS - STUDIES IN CULTURED FIBROBLASTS [J].

HALL, CW ;

CANTZ, M ;

NEUFELD, EF .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 155 (01) :32-38

[9]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

[10]

McKusick V.A., 1972, CLIN GENET

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