Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency.

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作者信息

Fairbanks L D, Shovlin C L, Webster A D, Hughes J M, Simmonds H A

机构信息

Purine Research Laboratory, UMDS, Guy's Hospital, London, UK.

出版信息

J Inherit Metab Dis. 1994;17(1):135-7. doi: 10.1007/BF00735418.

DOI:10.1007/BF00735418

PMID:7914248

Abstract

摘要

相似文献

Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency.

J Inherit Metab Dis. 1994;17(1):135-7. doi: 10.1007/BF00735418.

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[Adenosine deaminase deficit in severe combined immunodeficiency (author's transl)].

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本文引用的文献

Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy.聚乙二醇化腺苷脱氨酶用于腺苷脱氨酶缺乏症的酶替代疗法：概述及三例患者病例报告，其中两例患者目前正在接受基因治疗。

Pediatr Res. 1993 Jan;33(1 Suppl):S42-7; discussion S47-8. doi: 10.1203/00006450-199305001-00236.

Adult presentation of adenosine deaminase deficiency.腺苷脱氨酶缺乏症的成人表现。

Lancet. 1993 Jun 5;341(8858):1471. doi: 10.1016/0140-6736(93)90910-9.

Human B lymphocytes and thymocytes but not peripheral blood mononuclear cells accumulate high dATP levels in conditions simulating ADA deficiency.在模拟腺苷脱氨酶缺乏的条件下，人类B淋巴细胞和胸腺细胞而非外周血单核细胞会积累高水平的脱氧三磷酸腺苷（dATP）。

Biochem Pharmacol. 1985 Oct 1;34(19):3561-9. doi: 10.1016/0006-2952(85)90734-8.

Clin Exp Immunol. 1987 Dec;70(3):491-9.

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.

Clin Chim Acta. 1988 Feb 15;171(2-3):197-210. doi: 10.1016/0009-8981(88)90145-3.

Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.

J Inherit Metab Dis. 1987;10(2):174-86. doi: 10.1007/BF01800045.

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