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Hair root diagnosis of Fabry's disease.

作者信息

Robinson D, Tager J M

出版信息

J Inherit Metab Dis. 1989;12(4):491-2. doi: 10.1007/BF01802051.

DOI:10.1007/BF01802051
PMID:2516183
Abstract
摘要

相似文献

1
Hair root diagnosis of Fabry's disease.
J Inherit Metab Dis. 1989;12(4):491-2. doi: 10.1007/BF01802051.
2
Detection of Fabry's disease carriers by enzyme assay of hair roots.
J Inherit Metab Dis. 1989;12 Suppl 2:369-71. doi: 10.1007/BF03335425.
3
Severe orthostatic hypotension in a female carrier of Fabry's disease.
Arch Neurol. 1988 Apr;45(4):468-72. doi: 10.1001/archneur.1988.00520280122030.
4
Fabry's disease: heterozygote detection by hair root analysis.
Hum Genet. 1976 Jun 29;32(3):329-34. doi: 10.1007/BF00295824.
5
[Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases].[弥漫性躯体血管角皮瘤（法布里病）。最新进展。关于2例报道]
Med Cutan Ibero Lat Am. 1985;13(2):129-40.
6
Detection of Fabry's disease heterozygotes by hair root analysis.通过发根分析检测法布里病杂合子。
Clin Genet. 1978 Mar;13(3):251-8. doi: 10.1111/j.1399-0004.1978.tb01178.x.
7
Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease.人体组织中溶酶体α-半乳糖苷酶的差异测定及其在法布里病中的应用。
Clin Chim Acta. 1981 May 5;112(2):247-51. doi: 10.1016/0009-8981(81)90384-3.
8
Heterozygote detection in Fabry's disease using mailed hair roots.
Br J Dermatol. 1980 Jul;103(1):101-3. doi: 10.1111/j.1365-2133.1980.tb15845.x.
9
Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.通过细胞分选后单个成纤维细胞中的酶分析检测法布里病杂合子。
Clin Genet. 1983 Apr;23(4):261-6. doi: 10.1111/j.1399-0004.1983.tb01874.x.
10
Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease.在法布里病中尝试通过胎儿肝移植进行酶替代治疗。
Lancet. 1979 May 19;1(8125):1094-5. doi: 10.1016/s0140-6736(79)92999-4.

本文引用的文献

1
Heterozygote detection in Fabry's disease using mailed hair roots.
Br J Dermatol. 1980 Jul;103(1):101-3. doi: 10.1111/j.1365-2133.1980.tb15845.x.
2
Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.莱施-奈恩综合征：利用毛囊快速检测杂合子。
Science. 1971 May 7;172(3983):572-4. doi: 10.1126/science.172.3983.572.
3
Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.葡萄糖-6-磷酸脱氢酶嵌合体：作为追踪剂在毛根细胞发育研究中的应用。
Ann Hum Genet. 1969 Oct;33(2):171-6. doi: 10.1111/j.1469-1809.1969.tb01642.x.
4
Detection of Fabry's disease carriers by enzyme assay of hair roots.
J Inherit Metab Dis. 1989;12 Suppl 2:369-71. doi: 10.1007/BF03335425.
5
Fabry's disease: heterozygote detection by hair root analysis.
Hum Genet. 1976 Jun 29;32(3):329-34. doi: 10.1007/BF00295824.
6
Inborn errors of metabolism: screening for heterozygotes using hair roots.先天性代谢缺陷：利用发根筛查杂合子。
Br J Dermatol. 1979 Jul;101(1):111-4. doi: 10.1111/j.1365-2133.1979.tb15302.x.
7
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.弥漫性躯体血管角质瘤（安德森 - 法布里病）中的杂合子检测。关于血浆、白细胞和毛囊的研究。
J Med Genet. 1977 Apr;14(2):91-9. doi: 10.1136/jmg.14.2.91.
8
Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.
J Inherit Metab Dis. 1978;1(2):71-4. doi: 10.1007/BF01801848.
9
Detection of Fabry's disease heterozygotes by hair root analysis.通过发根分析检测法布里病杂合子。
Clin Genet. 1978 Mar;13(3):251-8. doi: 10.1111/j.1399-0004.1978.tb01178.x.
10
Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection.
Br J Dermatol. 1978 Feb;98(2):191-6. doi: 10.1111/j.1365-2133.1978.tb01621.x.