Associated Papers
Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
Kılıç Könte E et al.
The Turkish Journal of Pediatrics, 2025
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.
Jeyaratnam J et al.
Pediatric Rheumatology Online Journal, 2022
AA amyloidosis presenting with acute kidney injury, curable or not?
Uysal B et al.
The Turkish Journal of Pediatrics, 2022
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
Bąbol-Pokora K et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
De Benedetti F et al.
The New England Journal of Medicine, 2018
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2016
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
Peciuliene S et al.
Pediatric Rheumatology Online Journal, 2016
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
Pace S et al.
Indian Dermatology Online Journal, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.
Prasad C et al.
Molecular Genetics and Metabolism, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria.
Nimubona L et al.
Acta Paediatrica (oslo, Norway : 1992), 2002
Recurrent fevers and failure to thrive in an infant.
Scott DR et al.
Allergy and Asthma Proceedings, 0