Punctate calcifications in lysosomal storage disorders

被引：0

作者：

Doederlein Schwartz, Ida Vanessa ^{[1
,2
]}

Artigalas, Osvaldo ^{[1
,2
]}

Ries, Markus ^{[3
,4
]}

Clarke, Joe T. R. ^{[5
]}

Giugliani, Roberto ^{[1
,2
]}

Beck, Michael ^{[3
]}

机构：

[1] Hosp Clin Porto Alegre, Serv Genet Med, BR-90035003 Porto Alegre, RS, Brazil

[2] Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, Dept Genet, BR-90046900 Porto Alegre, RS, Brazil

[3] Johannes Gutenberg Univ Mainz, Childrens Hosp, D-6500 Mainz, Germany

[4] Shire Human Genet Therapies Clin Res & Dev, Cambridge, MA USA

[5] Hosp Sick Children, Toronto, ON M5G 1X8, Canada

来源：

关键词：

MULTIPLE SULFATASE DEFICIENCY; I-CELL DISEASE; MANIFESTATIONS; NEURAMINIDASE; MUCOLIPIDOSIS; FIBROBLASTS;

D O I：

10.1097/MCD.0b013e32832a9ed5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：172 / 177

页数：6

共 28 条

[1] Biochemical basis of the pharmacologic action of chondroitin sulfates on the osteoarticular system
Bali, JP
Cousse, H
Neuzil, E
[J]. SEMINARS IN ARTHRITIS AND RHEUMATISM, 2001, 31 (01) : 58 - 68
[2] BECK M, 1995, CLIN GENET, V47, P191
[3] Molecular analysis of the GlcNac-1-phosphotransferase
Braulke, T.
Pohl, S.
Storch, S.
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 (02) : 253 - 257
[4] BRUBAKK AM, 1983, TIJDCHRS KINDERGENEE, V50, P130
[5] BURCH M, 1986, CLIN GENET, V30, P409
[6] BURK R, 1981, AM J HUM GENET, V33, pA73
[7] EARLY MANIFESTATIONS OF MULTIPLE SULFATASE DEFICIENCY
BURK, RD
VALLE, D
THOMAS, GH
MILLER, C
MOSER, A
MOSER, H
ROSENBAUM, KN
[J]. JOURNAL OF PEDIATRICS, 1984, 104 (04) : 574 - 578
[8] BUSCHE A, 2008, EUR J PEDIAT
[9] Camera G, 1982, Prog Clin Biol Res, V104, P441
[10] Sulfatases and human disease
Diez-Roux, G
Ballabio, A
[J]. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2005, 6 : 355 - 379