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  1. Brennenstuhl, Heiko [Author]; Nashawi, Mohammed [Author]; Schröter, Julian [Author]; Baronio, Federico [Author]; Beedgen, Lars [Author]; Gleich, Florian [Author]; Jeltsch, Kathrin [Author]; Landenberg, Christina von [Author]; Martini, Silvia [Author]; Simon, Anna [Author]; Thiel, Christian [Author]; Tsiakas, Konstantinos [Author]; Opladen, Thomas [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Haas, Dorothea [Author]

    Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 5, Seite 1272-1287

  11. Steiner, Laurie A.; Ehrenkranz, Richard A.; Peterec, Steven M.; Steiner, Robert D.; Reyes-Múgica, Miguel; Gallagher, Patrick G.

    Perinatal Onset Mevalonate Kinase Deficiency

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    SAGE Publications, 2011

    Published in: Pediatric and Developmental Pathology

  14. Kozlova, A. L.; Bludova, V. O.; Burlakov, V. I.; Raykina, E. V.; Varlamova, T. V.; Kurnikova, М. А.; Remizov, А. N.; Tereshchenko, G. V.; Moiseeva, А. А.; Dibirova, S. А.; Khoreva, А. L.; Roppelt, А. А.; Rodina, Yu. А.; Kuzmenko, N. B.; Mukhina, А. А.; Каlashnikova, Е. I.; Igisheva, L. N.; Martynova, N. V.; Zhogova, О. V.; Zimin, S. B.; Barabanova, О. V.; Kotova, Yu. V.; Novichkova, G. А.; Shcherbina, А. Yu.

    Mevalonate kinase deficiency syndrome: Single center experience

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    Mediar Press, 2021

    Published in: Rheumatology Science and Practice

  16. MARCUZZI, ANNALISA; VOZZI, DIEGO; GIRARDELLI, MARTINA; TRICARICO, PAOLA MAURA; KNOWLES, ALESSANDRA; CROVELLA, SERGIO; VUCH, JOSEF; TOMMASINI, ALBERTO; PISCIANZ, ELISA; BIANCO, ANNA MONICA

    Putative modifier genes in mevalonate kinase deficiency

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    Spandidos Publications, 2016

    Published in: Molecular Medicine Reports

  17. Cantarini, Luca; Vitale, Antonio; Magnotti, Flora; Lucherini, Orso; Caso, Francesco; Frediani, Bruno; Galeazzi, Mauro; Rigante, Donato

    Weekly oral alendronate in mevalonate kinase deficiency

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    Springer Science and Business Media LLC, 2013

    Published in: Orphanet Journal of Rare Diseases