Literature DB >> 30782345

Reversible encephalopathy caused by an inborn error of cobalamin metabolism.

Sheng-Jun Wang1, Yu-Ying Zhao1, Chuan-Zhu Yan2.   

Abstract

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Year:  2019        PMID： 30782345     DOI： 10.1016/S0140-6736(19)30043-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  5 in total

1.  Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene.

Authors:  Shengnan Wang; Xu Wang; Jianxin Xi; Wenzhuo Yang; Mingqin Zhu
Journal:  Front Neurol       Date:  2022-07-05       Impact factor: 4.086

2.  Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Authors:  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
Journal:  Cell Rep Med       Date:  2022-06-27

3.  Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.

Authors:  Zhehui Chen; Hui Dong; Yao Zhang; Yanling Yang; 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
Journal:  Orphanet J Rare Dis       Date:  2022-09-02       Impact factor: 4.303

4.  Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

Authors:  Chao Wang; Yang Liu; Fengying Cai; Xinjie Zhang; Xiaowei Xu; Yani Li; Qianqian Zou; Jie Zheng; Yuqin Zhang; Wei Guo; Chunquan Cai; Jianbo Shu
Journal:  Mol Genet Genomic Med       Date:  2020-03-21       Impact factor: 2.183

5.  High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

Authors:  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
Journal:  JIMD Rep       Date:  2019-12-13
  5 in total

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