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 manifest...

Full description

Bibliographic Details

Published in:	Nauchno-prakticheskai͡a︡ revmatologii͡a Vol. 59; no. 3; pp. 326 - 334
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	IMA PRESS LLC 15-07-2021
Subjects:	autoinflammatory syndrome children hyper igd syndrome mevalonate kinase mevalonic aciduria mvk periodic syndrome
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!