Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency-Reference-Cited by-同舟云学术

Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency

Published:2022-04-11 Issue:9 Volume:269 Page:5173-5178
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Di Giacomo Roberta^ORCID,Salsano Ettore,Deleo Francesco,Pastori Chiara,Didato Giuseppe,Stabile Andrea,Ferrario Rosalba,Giovagnoli Anna Rita,Benzoni Chiara,Sarro Lidia,Visani Elisa,Canafoglia Laura

Funder

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-022-11129-4.pdf

Reference14 articles.

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2. Thauvin-Robinet C, Roze E, Couvreur G et al (2008) The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry 79:725–728. https://doi.org/10.1136/jnnp.2007.133025

3. Kalantari S, Brezzi B, Bracciamà V et al (2022) Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. Orphanet J Rare Dis 17:33. https://doi.org/10.1186/s13023-022-02179-y

4. Rosenblatt DS, Aspler AL, Shevell MI et al (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 20:528–538. https://doi.org/10.1023/a:1005353530303

5. Lemoine M, François A, Grangé S et al (2018) Cobalamin C deficiency induces a typical histopathological pattern of renal arteriolar and glomerular thrombotic microangiopathy. Kidney Int Rep 3:1153–1162. https://doi.org/10.1016/j.ekir.2018.05.015