甲基丙二酸尿症伴高胱氨酸尿症 - Suppr | 超能文献

Methylmalonic aciduria with homocystinuria.

作者信息

Ribes A, Vilaseca M A, Briones P, Maya A, Sabater J, Pascual P, Alvarez L, Ros J, Gonzalez Pascual E

出版信息

J Inherit Metab Dis. 1984;7 Suppl 2:129-30. doi: 10.1007/978-94-009-5612-4_39.

DOI:10.1007/978-94-009-5612-4_39

Abstract

摘要

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Methylmalonic aciduria with homocystinuria.甲基丙二酸尿症伴高胱氨酸尿症

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Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.与甲基丙二酸尿症及含硫氨基酸异常相关的维生素B12紊乱中的视网膜变性。

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引用本文的文献

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Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).合并甲基丙二酸血症和同型胱氨酸尿症（cblC型）的临床异质性与预后

J Inherit Metab Dis. 1997 Aug;20(4):528-38. doi: 10.1023/a:1005353530303.

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Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.伴有高胱氨酸尿症的甲基丙二酸尿症：一名钴胺素C型患者的生化研究、治疗及临床病程

Eur J Pediatr. 1990 Mar;149(6):412-5. doi: 10.1007/BF02009662.

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Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.一名合并甲基丙二酸血症和高胱氨酸尿症患者的生化诊断及两年治疗结果

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