A case of MTHFR deficiency characterized by adult-onset spastic paraplegia-Reference-Cited by-同舟云学术

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A case of MTHFR deficiency characterized by adult-onset spastic paraplegia

Published:2023-11-16 Issue: Volume: Page:
ISSN:1460-2725
Container-title:QJM: An International Journal of Medicine
language:en
Short-container-title:

Author:

Liu L¹,Sun Q¹²,Yang G³

Affiliation:

1. Department of Geriatric Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008, China

2. National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, China

3. Department of General Medicine, Xiangya Hospital, Central South University , Changsha, Hunan, China

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcad258/53709706/hcad258.pdf

Reference6 articles.

1. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients;Burda;Hum Mutat,2015

2. A novel homozygous non-sense mutation in the catalytic domain of MTHFR causes severe 5,10-methylenetetrahydrofolate reductase deficiency;Massadeh;Front Neurol,2019

3. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation;Liu;Aging (Albany NY),2020

4. Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity;Yano;Neurogenetics,2004

5. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency;Huemer;J Inherit Metab Dis,2016

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