Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders

Josef Finsterer

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PDF(144 KB)
Global Medical Genetics ›› 2023, Vol. 10 ›› Issue (03) : 188-189. DOI: 10.1055/s-0043-1771183
Letter to the Editor
Letter to the Editor

Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders

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Josef Finsterer. Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders. Global Medical Genetics, 2023, 10(03): 188‒189 https://doi.org/10.1055/s-0043-1771183

References

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Sreedevi N, Swapna N, Maruthy S, Meghavathi HS, Sylvester C. PMM2 -CDG T237M mutation in a patient with cerebral palsy-like phenotypes reported from South India. Glob Med Genet 2023;10(02):105-108
[2]
Finsterer J. Characteristics of stroke-like lesions on cerebral imaging. Ideggyogy Sz 2023;76(1-2):5-10
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Finsterer J, Aliyev R. Metabolic stroke or stroke-like lesion: peculiarities of a phenomenon. J Neurol Sci 2020;412:116726
[4]
De Graef D, Ligezka AN, Rezents J. et al. Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. Mol Genet Metab 2023;139(02):107606

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2023 Global Medical Genetics
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