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Neuropsychiatric Disease and Treatment Volume 15, 2019 - Issue

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Original Research

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

Sheng-jun WangDepartment of Neurology, Qilu Hospital, Shandong University, Jinan, China, [email protected]

Chuan-zhu YanDepartment of Neurology, Qilu Hospital, Shandong University, Jinan, China, [email protected]

Bing WenDepartment of Neurology, Qilu Hospital, Shandong University, Jinan, China, [email protected]

Yu-ying ZhaoDepartment of Neurology, Qilu Hospital, Shandong University, Jinan, China, [email protected]Correspondence[email protected]

Pages 549-555 | Published online: 21 Feb 2019

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Christopher Goyne & Leena Kansal. (2023) Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration. Neurology 100:10, pages 486-489.
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Brian Stamm, Rebecca DiBiase, Glenn Ryan Harris, Hagop Kaprielian, Nupur Brahmbhatt, Allan D. Wu, Joshua Baker & Eric M. Liotta. (2023) Clinical Reasoning: A Young Adult Man With Cognitive Changes, Gait Difficulty, and Renal Insufficiency. Neurology 100:4, pages 206-212.
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Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta & Marco Spada. (2022) Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. Orphanet Journal of Rare Diseases 17:1.
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Aminu Aliyar, Mounika Endrakanti, Rajesh K Singh, Arunmozhimaran Elavarasi, Neerja Gupta, Deepti Vibha & Manjari Tripathi. (2022) Late-onset cobalamin C disease: rare but treatable. Practical Neurology 22:5, pages 418-421.
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Ramyia Elangovan & Julien Baruteau. (2022) Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?. Frontiers in Pharmacology 13.
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Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang & Yanling Yang. (2022) Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment. Orphanet Journal of Rare Diseases 17:1.
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Shengnan Wang, Xu Wang, Jianxin Xi, Wenzhuo Yang & Mingqin Zhu. (2022) Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene. Frontiers in Neurology 13.
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Arnaud Wiedemann, Abderrahim Oussalah, Nathalie Lamireau, Maurane Théron, Melissa Julien, Jean-Philippe Mergnac, Baptiste Augay, Pauline Deniaud, Tom Alix, Marine Frayssinoux, François Feillet & Jean-Louis Guéant. (2022) Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis. Cell Reports Medicine 3:7, pages 100670.
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Rik Vandenberghe, Pieter Vermeersch, David Cassiman, Wouter Meersseman, Philippe Demaerel, Lode Van Overbeke, Scott Ailliet & Toon Schiemsky. (2022) A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency. Biochemia medica 32:2, pages 306-312.
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Luciana Hannibal & Donald W. Jacobsen. 2022. Vitamin B12. Vitamin B12 275 298 .

Yanping Wei & Honglin Hao. (2021) Late-onset cobalamin C disease presenting with acute cerebellar ataxia. Neurological Sciences 42:11, pages 4839-4842.
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Haijun Yuan, Sipeng Deng, Wei Gao, Huaxin Li & Mei Yuan. (2021) Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman. Metabolic Brain Disease 36:3, pages 447-452.
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Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang & Yun Yuan. (2020) Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?. Frontiers in Neurology 11.
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Susan Beckwitt Turkel, Derek Wong & Linda Randolph. (2020) Psychiatric Symptoms Associated with Inborn Errors of Metabolism. SN Comprehensive Clinical Medicine 2:9, pages 1646-1660.
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Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun & Tao Wang. (2019) High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency. JIMD Reports 51:1, pages 17-24.
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Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

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Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

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