Reversible Spastic Paraparesis.
作者信息
Kasinathan Ananthanarayanan, Sharawat Indar Kumar, Sankhyan Naveen, Vyas Sameer, Attri Savita
机构信息
Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Sri Balaji Vidyapeeth University, Puducherry, India.
Department of Pediatrics, Pediatric Neurology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
出版信息
Ann Indian Acad Neurol. 2019 Apr-Jun;22(2):246-247. doi: 10.4103/aian.AIAN_351_18.
Abstract
摘要
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Ann Indian Acad Neurol. 2019 Apr-Jun;22(2):246-247. doi: 10.4103/aian.AIAN_351_18.
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.钴胺素相关再甲基化障碍（cblC、cblD、cblE、cblF、cblG、cblJ和亚甲基四氢叶酸还原酶缺乏症）的诊断与管理指南
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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.合并型甲基丙二酸血症合并同型胱氨酸尿症，cblC 型。一、临床表现、诊断和治疗。
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Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.迟发性同型胱氨酸尿症合并甲基丙二酸尿症（cblC型）及神经精神障碍。
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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.甲基丙二酸尿症和同型胱氨酸尿症（cblC型）致病基因的鉴定。
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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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