Mevalonate kinase deficiency syndrome: Single center experience

The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to 30.0 months (M – 1.5 months). Clinical manifestat...

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Main Authors:	A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina
Format:	Article
Language:	Russian
Published:	IMA PRESS LLC 2021-07-01
Series:	Научно-практическая ревматология
Subjects:	autoinflammatory syndrome hyper igd syndrome mevalonate kinase mevalonic aciduria mvk periodic syndrome children
Online Access:	https://rsp.mediar-press.net/rsp/article/view/3048
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https://rsp.mediar-press.net/rsp/article/view/3048

Mevalonate kinase deficiency syndrome: Single center experience

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