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Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency

Crossref DOI link: https://doi.org/10.1007/s10072-025-08801-8

Published Online: 2026-01-20

Published Print: 2026-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Li, Yi-Xiao https://orcid.org/0000-0001-8159-3546
Wang, Ming-Qiu

Wang, Rui-Yun

Hao, Yan-Lei
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Text and Data Mining valid from 2026-01-01

Version of Record valid from 2026-01-01
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Article History

Received: 13 November 2025

Accepted: 29 December 2025

First Online: 20 January 2026

Declarations

:

: This report was approved by the Ethics Committee of Taikang Ningbo Hospital. Written informed consent for the publication of the report was obtained from the patient.

: The authors have no conflicts of interest to declare.

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