Mevalonate kinase deficiency syndrome: Single center experience

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...

Full description

Bibliographic Details
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

Internet

https://rsp.mediar-press.net/rsp/article/view/3048

Similar Items