Biochemical differentiation of trisomic Down's syndrome (mongolism) from that due to translocation.

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作者信息

Rosner F, Ong B H, Paine R S, Mahanand D

出版信息

N Engl J Med. 1965 Dec 16;273(25):1356-61. doi: 10.1056/NEJM196512162732503.

DOI:10.1056/NEJM196512162732503

PMID:4221297

Abstract

摘要

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Biochemical differentiation of trisomic Down's syndrome (mongolism) from that due to translocation.

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A boy with trisomic Down's syndrome and a familial 5-?7 translocation, 47,XY,+21, t (5q-; ?7p+).一名患有三体性唐氏综合征且伴有家族性5;7易位的男孩，核型为47,XY,+21,t(5q-;7p+) 。

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Antioxidants (Basel). 2022 Jun 20;11(6):1208. doi: 10.3390/antiox11061208.

Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome.代谢物在生物能量途径中的作用的荟萃分析揭示唐氏综合征中的假缺氧状态。

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Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody.利用体细胞杂种和抗L单克隆抗体将人类肝型6-磷酸果糖激酶同工酶（PFKL）基因定位于21号染色体。

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Lack of position effect on the activity of SODCu/Zn gene in subjects with 21/D and 21/G Robertsonian translocations.21/D和21/G罗伯逊易位患者中SODCu/Zn基因活性缺乏位置效应。

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[Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)].21三体综合征中因基因三倍体导致的（作者译）二聚体型吲哚酚氧化酶活性过高

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Letter: Psychosis in Down's syndrome treated with amitriptyline.信件：用阿米替林治疗唐氏综合征中的精神病。

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Phosphofructokinase and chromosome 21.磷酸果糖激酶与21号染色体

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Diminished activity of platelet monoamine oxidase in Down's syndrome.唐氏综合征患者血小板单胺氧化酶活性降低。

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Response to atropine in Down's syndrome.唐氏综合征对阿托品的反应。

Arch Dis Child. 1971 Feb;46(245):61-5. doi: 10.1136/adc.46.245.61.

Red cell enzymes in trisomy 21.21三体综合征中的红细胞酶

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