Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

OR11-001 - Protein misfolding in mevalonate kinase deficiency

Authors: S Stojanov, SW Gersting, L Reitzle, D Reiß, BH Belohradsky, M Vogeser, B Maier, D Teupser, AC Muntau

Published in: Pediatric Rheumatology | Special Issue 1/2013

Login to get access

Excerpt

Mevalonate kinase deficiency (MKD) is an early-onset autosomal recessive autoinflammatory fever syndrome lacking specific treatment options. Current data point to protein misfolding as underlying molecular mechanism. …
Metadata
Title
OR11-001 - Protein misfolding in mevalonate kinase deficiency
Authors
S Stojanov
SW Gersting
L Reitzle
D Reiß
BH Belohradsky
M Vogeser
B Maier
D Teupser
AC Muntau
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A190

Other articles of this Special Issue 1/2013

Pediatric Rheumatology 1/2013 Go to the issue

Meeting abstract

P01-036 – Systemic amyloidosis presenting with amyloidoma

Meeting abstract

PW02-009 - PAPA syndrome: results from the Euroefever registry

Meeting abstract

P02-008 - Dramatic response to canakinumab in MKD

Meeting abstract

PW02-012 - First clinical description of an infant with DITRA

Meeting abstract

PW03-028 – Atypical presentation of CRMO in two children

Meeting abstract

PW03-018 – Efficacy of Anakinra in recurrent pericarditis