Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.
作者信息
Prence E M, Gleason J, Natowicz M R
机构信息
Division of Medical Genetics, E.K. Shriver Center, Waltham, MA 02254, USA.
出版信息
Clin Chim Acta. 1996 Mar 29;247(1-2):167-73. doi: 10.1016/0009-8981(95)06240-8.
PMID:8920235
Abstract
摘要
相似文献
1
Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.用于诊断α-N-乙酰半乳糖胺酶缺乏症的白细胞和成纤维细胞α-N-乙酰半乳糖胺酶活性临床检测方法的特性分析
Clin Chim Acta. 1996 Mar 29;247(1-2):167-73. doi: 10.1016/0009-8981(95)06240-8.
2
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.α-N-乙酰半乳糖胺酶缺乏症，一种新的溶酶体贮积症。
J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424.
3
[Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]].[辛德勒病/神崎病[α-N-乙酰半乳糖胺酶缺乏症]]
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):372-4.
4
An investigation into the glycolipid metabolism of alpha-N-acetylgalactosaminidase-deficient fibroblasts using native and artificial glycolipids.利用天然和人工糖脂对α-N-乙酰半乳糖胺酶缺陷型成纤维细胞的糖脂代谢进行的研究。
Biol Chem Hoppe Seyler. 1992 Oct;373(10):989-99. doi: 10.1515/bchm3.1992.373.2.989.
5
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0.
6
Micromethod for the fluorimetric determination of plasma N-acetyl-alpha-D-galactosaminidase and study of some of its characteristics.血浆N-乙酰-α-D-半乳糖苷酶荧光测定的微量法及其某些特性研究
Enzyme Protein. 1996;49(5-6):273-80. doi: 10.1159/000468637.
7
Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.正常和突变型人皮肤成纤维细胞对A血型糖脂A-6-2的降解作用。
J Lipid Res. 1998 Sep;39(9):1768-80.
8
Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.人α-N-乙酰半乳糖胺酶的生物合成：婴儿期α-NAGA缺乏症中磷酸化和成熟缺陷。
Biochem Biophys Res Commun. 1991 Mar 29;175(3):1097-103. doi: 10.1016/0006-291x(91)91678-6.
9
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.两名成年同胞中α-N-乙酰半乳糖胺酶缺乏的轻度表型表达。
J Inherit Metab Dis. 1994;17(6):724-31. doi: 10.1007/BF00712015.
10
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.溶酶体α-N-乙酰半乳糖胺酶缺乏症，即弥漫性躯体血管角质瘤伴糖肽尿症中的酶缺陷。
J Clin Invest. 1991 Aug;88(2):707-11. doi: 10.1172/JCI115357.
Zotero 插件