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Neurological manifestations in mevalonate kinase deficiency: A systematic review.
Elhani I, Hentgen V, Grateau G, Georgin-Lavialle S. Elhani I, et al. Mol Genet Metab. 2022 Jun;136(2):85-93. doi: 10.1016/j.ymgme.2022.04.006. Epub 2022 Apr 30. Mol Genet Metab. 2022. PMID: 35525811 Review.
Serious involvements including ataxia and developmental delay were described less than 1% of patients but 22-31% of case reports. They consistently appeared in the first years of life. Retinal dystrophy was frequently reported (31%) in case reports. Other manifestat …
Serious involvements including ataxia and developmental delay were described less than 1% of patients but 22-31% of case reports. They consi …