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Abbreviation : MA
Long Form : mevalonic aciduria
No. Year Title Co-occurring Abbreviation
2017 Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency. MKD, MVK
2015 In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency. HIDS, MVK
2012 Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency. ---
2012 Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line. HMGCR, MKD
2011 On-demand anakinra treatment is effective in mevalonate kinase deficiency. HIDS, MKD
2010 A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. HIDS, MKD, MVK
2007 Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. HIDS, MKD, MVK
2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. HIDS, MK, MKD
2003 Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. HIDS, MK
10  2003 Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. HIDS, HMG, MK
11  2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. HIDS, MK, MVK
12  2000 Mevalonate kinase deficiency and Dutch type periodic fever. DPF, HIDS, MK