用于鞘脂类病基因互补分析和早期产前诊断的简易超微技术。 - Suppr | 超能文献

Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses.

作者信息

Hösli P

出版信息

Adv Exp Med Biol. 1976;68:1-13. doi: 10.1007/978-1-4684-7735-1_1.

DOI:10.1007/978-1-4684-7735-1_1

Abstract

摘要

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Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses.用于鞘脂类病基因互补分析和早期产前诊断的简易超微技术。

Adv Exp Med Biol. 1976;68:1-13. doi: 10.1007/978-1-4684-7735-1_1.

2

[Heterogeneity of inborn glycolipidoses and glycoproteinoses and their enzymologic diagnosis].

Vopr Med Khim. 1982 May-Jun;28(3):32-41.

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Antenatal diagnosis and therapeutic trends in sphingolipidoses.

JAMA. 1974 Apr 29;228(5):615-8.

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[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)].通过测定溶酶体水解酶对先天性鞘脂类沉积病进行临床、临床前及产前诊断（作者译）

Fortschr Neurol Psychiatr Grenzgeb. 1978 Apr;46(4):207-21.

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Sphingomyelinases and the genetic defects in Niemann-Pick disease.鞘磷脂酶与尼曼-匹克病的基因缺陷

Adv Exp Med Biol. 1976;68:367-78. doi: 10.1007/978-1-4684-7735-1_24.

6

[Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses].[溶酶体疾病中的酶诊断，重点关注鞘脂类疾病]

Arch Fr Pediatr. 1975 Jun-Jul;32(6):503-14.

7

Enzymic diagnosis of sphingolipidoses.鞘脂类贮积病的酶学诊断

Methods Enzymol. 1978;50:456-88. doi: 10.1016/0076-6879(78)50049-9.

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[Sphingolipidoses].

ZFA (Stuttgart). 1979 Nov 30;55(33):1922-4.

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Enzyme defects in the sphingolipidoses and their application to diagnosis.

Ann Clin Lab Sci (1971). 1972 Jul-Aug;2(4):285-94.

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The biochemistry of sphingolipid storage diseases.鞘脂贮积病的生物化学

Angew Chem Int Ed Engl. 1977 May;16(5):273-85. doi: 10.1002/anie.197702733.

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Reliable detection of cystic fibrosis in skin-derived fibroblast cultures.在皮肤来源的成纤维细胞培养物中对囊性纤维化进行可靠检测。

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