青少年期钴胺素C突变（甲基丙二酸尿症和高胱氨酸尿症）。痴呆和脊髓病的一个可治疗病因。 - Suppr

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超能文献

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.

作者信息

Shinnar S, Singer H S

出版信息

N Engl J Med. 1984 Aug 16;311(7):451-4. doi: 10.1056/NEJM198408163110707.

DOI:10.1056/NEJM198408163110707

PMID:6749192

Abstract

摘要

相似文献

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.青少年期钴胺素C突变（甲基丙二酸尿症和高胱氨酸尿症）。痴呆和脊髓病的一个可治疗病因。

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Gene discovery in methylmalonic aciduria and homocystinuria.甲基丙二酸血症和同型胱氨酸尿症中的基因发现

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Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.青少年期起病的钴胺素代谢遗传性缺陷（同型胱氨酸尿症和甲基丙二酸尿症）

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Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.细胞内钴胺素代谢的先天性缺陷导致同型胱氨酸尿症和甲基丙二酸尿症。I. 病例报告和组织病理学

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A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.一种伴有高胱氨酸尿症、甲基丙二酸尿症和大细胞性贫血的钴胺素代谢缺陷。

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Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.伴有甲基丙二酸尿症和高胱氨酸尿症的癫痫样眼球运动。

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