Letter: Phenotypic variation in alpha-L-iduronidase deficiency.
作者信息
Leisti J, Rimoin D L, Kaback M M, Hollister D W, DEn Tandt W, Neufeld E, Matalon R, Philippart M
出版信息
Lancet. 1975 Jun 14;1(7920):1344. doi: 10.1016/s0140-6736(75)92351-x.
PMID:49545
Abstract
摘要
相似文献
1
Letter: Phenotypic variation in alpha-L-iduronidase deficiency.
Lancet. 1975 Jun 14;1(7920):1344. doi: 10.1016/s0140-6736(75)92351-x.
2
Variation in neuronal storage in alpha-L-iduronidase deficiency.
Am J Med Genet. 1985 Dec;22(4):827-9. doi: 10.1002/ajmg.1320220418.
3
Absence of alpha-L-iduronidase activity in various tissues from two sibs affected with presumably the Hurler-Scheie compound syndrome.来自两名可能患有Hurler-Scheie复合综合征的同胞的各种组织中缺乏α-L-艾杜糖醛酸酶活性。
Birth Defects Orig Artic Ser. 1975;11(6):341-6.
4
Genetic complementation analysis in somatic cell hybrids of alpha-L-iduronidase deficient cells.α-L-艾杜糖醛酸酶缺陷细胞的体细胞杂种中的遗传互补分析。
Hum Genet. 1985;69(3):287. doi: 10.1007/BF00293044.
5
The clinical spectrum of alpha-L-iduronidase deficiency.α-L-艾杜糖醛酸酶缺乏症的临床谱
Am J Med Genet. 1985 Mar;20(3):471-81. doi: 10.1002/ajmg.1320200308.
6
Post- and pre-natal assessment of alpha-L-iduronidase deficiency with a radiolabelled natural substrate.
Clin Sci (Lond). 1979 Jan;56(6):591-9. doi: 10.1042/cs0560591.
7
Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.艾杜糖醛酸酶缺乏型黏多糖贮积症的变异型：遗传异质性的进一步证据。
J Med Genet. 1977 Oct;14(5):346-51. doi: 10.1136/jmg.14.5.346.
8
Proceedings: Alpha-L-iduronidase deficiency associated with chondroitin sulphate mucopolysaccharidosis.论文集：与硫酸软骨素黏多糖贮积症相关的α-L-艾杜糖醛酸酶缺乏症
Arch Dis Child. 1975 Apr;50(4):329-30. doi: 10.1136/adc.50.4.329-b.
9
Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.来自α-L-艾杜糖醛酸酶缺乏症患者的培养皮肤成纤维细胞中α-L-艾杜糖醛酸酶的特性
Hum Genet. 1984;65(3):268-72. doi: 10.1007/BF00286515.
10
Mucopolysaccharide storage disorders.
J Indiana State Med Assoc. 1981 Feb;74(2):81-4.
引用本文的文献
1
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome).黏多糖贮积症 I H/S（胡勒-谢伊综合征）患者的放射学表现。
Pediatr Radiol. 1987;17(5):409-14. doi: 10.1007/BF02396619.
2
The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.黏多糖贮积症：氨基聚糖分解代谢的先天性缺陷。
Hum Genet. 1976 Jun 29;32(3):233-55. doi: 10.1007/BF00295816.
3
Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.艾杜糖醛酸酶缺乏型黏多糖贮积症的变异型：遗传异质性的进一步证据。
J Med Genet. 1977 Oct;14(5):346-51. doi: 10.1136/jmg.14.5.346.
4
Genetic heterogeneity within the chondroitinsulphaturias.硫酸软骨素尿症中的基因异质性。
J Med Genet. 1977 Apr;14(2):103-7. doi: 10.1136/jmg.14.2.103.
Zotero 插件