Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.
作者信息
Gold R, Bogdahn U, Kappos L, Toyka K V, Baumgartner E R, Fowler B, Wendel U
出版信息
J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):107-8. doi: 10.1136/jnnp.60.1.107.
Abstract
摘要
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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）
J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):107-8. doi: 10.1136/jnnp.60.1.107.
2
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.由于钴胺素代谢缺陷导致的甲基丙二酸尿症和高胱氨酸尿症合并出现的轻微面部异常。
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本文引用的文献
1
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。
N Engl J Med. 1984 Aug 16;311(7):451-4. doi: 10.1056/NEJM198408163110707.
2
Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.成年期表现为神经系统疾病的钴胺素代谢遗传性缺陷（cblG突变）
N Engl J Med. 1988 Jun 30;318(26):1738-41. doi: 10.1056/NEJM198806303182607.
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