蒙古症中的高尿酸血症。 - Suppr

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超能文献

Hyperuricemia in mongolism.

作者信息

Kaufman J M, O'Brien W M

出版信息

N Engl J Med. 1967 Apr 27;276(17):953-6. doi: 10.1056/NEJM196704272761704.

DOI:10.1056/NEJM196704272761704

PMID:4225909

Abstract

摘要

相似文献

Hyperuricemia in mongolism.蒙古症中的高尿酸血症。

N Engl J Med. 1967 Apr 27;276(17):953-6. doi: 10.1056/NEJM196704272761704.

Hyperuricemia in Down's syndrome.唐氏综合征中的高尿酸血症。

J Clin Endocrinol Metab. 1968 Apr;28(4):472-8. doi: 10.1210/jcem-28-4-472.

Hyperuricemia in childhood.

Fed Proc. 1968 Jul-Aug;27(4):1078-82.

[Gout and mongolism. Apropos of a case].[痛风与唐氏综合征。关于一例病例]

Rev Rhum Mal Osteoartic. 1974 Mar;41(3):203-7.

[Hyperuricemia in Down's syndrome (etiology, significance, and possibilities of its modification)].

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[Hyperuricemia with cerebral paresis. Syndrome of a hereditary purine metabolic disorder].[高尿酸血症伴脑性轻瘫。一种遗传性嘌呤代谢紊乱综合征]

Helv Paediatr Acta. 1967 Jul;22(3):258-70.

Uric acid studies in serum and cerebrospinal fluid in neurological disorders with mental retardation.

Indian Pediatr. 1971 Oct;8(10):712-5.

[Inborn hyperuricemia--an anomaly of uric acid metabolism in connection with psychomotor retardation, involuntary movements and self mutilation, Lesch-Nyhan syndrome].[先天性高尿酸血症——与精神运动发育迟缓、不自主运动和自残相关的尿酸代谢异常，莱施-奈恩综合征]

Nord Med. 1970 Jan 8;83(2):47-8.

Plasma urate levels in mongolism.蒙古症中的血浆尿酸水平。

Am J Ment Defic. 1969 Sep;74(2):196-9.

[Hyperuricemia and gout in monolism].

Reumatismo. 1977 Apr-Jun;28(2):63-70.

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Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.唐氏综合征患者的肾脏和泌尿系统问题：常见但被低估，会降低生活质量并增加肾衰竭风险。

Pediatr Nephrol. 2024 Feb;39(2):347-355. doi: 10.1007/s00467-023-05986-y. Epub 2023 Jun 29.

Biochemical Discrimination of the Down Syndrome-Related Metabolic and Oxidative/Nitrosative Stress Alterations from the Physiologic Age-Related Changes through the Targeted Metabolomic Analysis of Serum.通过血清靶向代谢组学分析对唐氏综合征相关代谢及氧化/亚硝化应激改变与生理性年龄相关变化进行生化鉴别。

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。

Mol Med. 2020 Nov 9;26(1):102. doi: 10.1186/s10020-020-00225-8.

Evaluation of uric acid levels, thyroid function, and anthropometric parameters in Japanese children with Down syndrome.对日本唐氏综合征患儿尿酸水平、甲状腺功能及人体测量参数的评估。

J Clin Biochem Nutr. 2017 Sep;61(2):146-152. doi: 10.3164/jcbn.17-55. Epub 2017 Aug 18.

Down syndrome with coexistent gout: report of six patients and possible reasons for the scarcity of descriptions of this association.唐氏综合征合并痛风：6例患者报告及关于此关联描述稀缺的可能原因

Ann Rheum Dis. 1996 Sep;55(9):649-50. doi: 10.1136/ard.55.9.649.

Uric acid metabolism in two patients with coexistent Down's syndrome and gout.两名同时患有唐氏综合征和痛风患者的尿酸代谢

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Genetic and constitutional influences on serum-uric-acid in a tropical rural population.

Humangenetik. 1971;11(2):83-90. doi: 10.1007/BF00393787.

Cat-eye syndrome, a partial trisomy 22.猫眼综合征，一种22号染色体部分三体。

Humangenetik. 1972;15(2):150-62. doi: 10.1007/BF00295742.

Epidemiology of serum uric acid and gout: an example of the complexities of multifactorial causation.血清尿酸与痛风的流行病学：多因素病因复杂性的一个实例。

Proc R Soc Med. 1970 Feb;63(2):193-7. doi: 10.1177/003591577006300233.

Arthritis in Down's syndrome.唐氏综合征中的关节炎

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