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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.

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Title: Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
Authors: Li YX; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China. Zju21918592@163.com., Wang MQ; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China., Wang RY; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China., Hao YL; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China.
Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2026 Jan 20; Vol. 47 (1), pp. 178. Date of Electronic Publication: 2026 Jan 20.
Publication Type: Journal Article; Case Reports; Review
Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Li+YX%22">Li YX</searchLink>; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China. Zju21918592@163.com.<br /><searchLink fieldCode="AU" term="%22Wang+MQ%22">Wang MQ</searchLink>; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China.<br /><searchLink fieldCode="AU" term="%22Wang+RY%22">Wang RY</searchLink>; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China.<br /><searchLink fieldCode="AU" term="%22Hao+YL%22">Hao YL</searchLink>; Department of Neurology, Taikang Ningbo Hospital, Ningbo, 315042, China.
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  Data: <searchLink fieldCode="JN" term="%22100959175%22">Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology</searchLink> [Neurol Sci] 2026 Jan 20; Vol. 47 (1), pp. 178. <i>Date of Electronic Publication: </i>2026 Jan 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag+Italia%22">Springer-Verlag Italia </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>100959175 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1590-3478 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215901874%22">15901874 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Sci <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10072-025-08801-8
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      – Code: eng
        Text: English
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        StartPage: 178
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      – TitleFull: Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
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            NameFull: Wang MQ
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            NameFull: Wang RY
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              Text: 2026 Jan 20
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              Y: 2026
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              Value: 47
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            – TitleFull: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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