Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-07270-1.pdf
Reference5 articles.
1. Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision. J Inherit Metab Dis 44(3):566–592. https://doi.org/10.1002/jimd.12370
2. Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM (2019) Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. J Inherit Metab Dis. 42(5):730–744. https://doi.org/10.1002/jimd.12129
3. Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS (2006) Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. Mol Genet Metab 87(3):219–225. https://doi.org/10.1016/j.ymgme.2005.11.011
4. Dave P, Curless RG, Steinman L (1984) Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol 41(12):1293–1296. https://doi.org/10.1001/archneur.1984.04050230079025
5. Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR (2022) Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Hum Genet. 141(7):1253–1267. https://doi.org/10.1007/s00439-021-02398-6
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