BETA-GLUCURONIDASE DEFICIENCY - A HETEROGENEOUS MUCOPOLYSACCHARIDOSIS

被引：28

作者：

LEE, JES ^{[1
]}

FALK, RE ^{[1
]}

NG, WG ^{[1
]}

DONNELL, GN ^{[1
]}

机构：

[1] CHILDRENS HOSP LOS ANGELES,DEPT PEDIAT,LOS ANGELES,CA 90054

来源：

AMERICAN JOURNAL OF DISEASES OF CHILDREN | 1985年 / 139卷 / 01期

关键词：

D O I：

10.1001/archpedi.1985.02140030059029

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：57 / 59

页数：3

共 19 条

[1] VARIATION IN PHENOTYPIC EXPRESSION OF BETA-GLUCURONIDASE DEFICIENCY [J].

BEAUDET, AL ;

DIFERRANTE, NM ;

FERRY, GD ;

NICHOLS, BL ;

MULLINS, CE .

JOURNAL OF PEDIATRICS, 1975, 86 (03) :388-394

[2]

Danes B S, 1974, Birth Defects Orig Artic Ser, V10, P251

[3] MEASUREMENT OF URINARY MUCOPOLYSACCHARIDES [J].

DIFERRAN.NM .

ANALYTICAL BIOCHEMISTRY, 1967, 21 (01) :98-&

[4]

GEHLER J, 1974, HUMANGENETIK, V23, P149

[5]

GITZELMANN R, 1978, HELV PAEDIATR ACTA, V33, P413

[6] FIXED THORACIC KYPHOSIS IN JUVENILES AND YOUNG-ADULTS .7. MASKED MUCOPOLYSACCHARIDOSIS (MPS) [J].

GITZELMANN, R ;

STEINMANN, B .

PEDIATRIC RESEARCH, 1980, 14 (12) :1423-1423

[7]

GUIBAUD P, 1979, J GENET HUM, V27, P29

[8]

HO MW, 1971, CLIN CHIM ACTA, V32, P443

[9] PRESENTATION OF MUCOPOLYSACCHARIDOSIS-VII (BETA-GLUCURONIDASE DEFICIENCY) IN INFANCY [J].

HOYME, HE ;

JONES, KL ;

HIGGINBOTTOM, MC ;

OBRIEN, JS .

JOURNAL OF MEDICAL GENETICS, 1981, 18 (03) :237-239

[10] POSTMORTEM OBSERVATIONS ON BETA-GLUCURONIDASE DEFICIENCY PRESENTING AS HYDROPS FETALIS [J].

IRANI, D ;

KIM, HS ;

ELHIBRI, H ;

DUTTON, RV ;

BEAUDET, A ;

ARMSTRONG, D .

ANNALS OF NEUROLOGY, 1983, 14 (04) :486-490

← 1 2 →