Literature DB >> 25091368

Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation.

Yan-ru Liu1, Yang-fei Ji1, Ya-li Wang2, Bo-ai Zhang1, Gui-yuan Fang1, Jing-tao Wang1, Gui-fang Sun1, Hong Lu1.   

Abstract

Entities:  

Keywords:  CLINICAL NEUROLOGY; METABOLIC DISEASE

Mesh：

Substances：

Year:  2014        PMID： 25091368     DOI： 10.1136/jnnp-2014-308203

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

1.  Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

Authors:  Dong-Xiao Li; Xi-Yuan Li; Hui Dong; Yu-Peng Liu; Yuan Ding; Jin-Qing Song; Ying Jin; Yao Zhang; Qiao Wang; Yan-Ling Yang
Journal:  World J Pediatr       Date:  2018-03-05       Impact factor: 2.764

2.  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

3.  Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Authors:  Sheng-Jun Wang; Chuan-Zhu Yan; Yi-Ming Liu; Yu-Ying Zhao
Journal:  Metab Brain Dis       Date:  2018-01-26       Impact factor: 3.584

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

Authors:  Sheng-Jun Wang; Chuan-Zhu Yan; Bing Wen; Yu-Ying Zhao
Journal:  Neuropsychiatr Dis Treat       Date:  2019-02-21       Impact factor: 2.570

5.  Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Authors:  Xujun Chu; Lingchao Meng; Wei Zhang; Jinjun Luo; Zhaoxia Wang; Yun Yuan
Journal:  Front Neurol       Date:  2020-11-26       Impact factor: 4.003

6.  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

Review 7.  Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Authors:  Minh G Nguyen; Lauren Tronick; Faraz Modirian; Rebecca Mardach; Aaron D Besterman
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24
  7 in total

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