Results 171 to 180 of about 29,180 (194)

[Mevalonate kinase deficiency in 2016].

La Revue de medecine interne, 2018
Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum ...
C, Galeotti, S, Georgin-Lavialle, G, Sarrabay, I, Touitou, I, Koné-Paut   +4 more
openaire   +1 more source

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.

Seminars in Arthritis & Rheumatism
OBJECTIVES This study aimed to comprehensively assess the clinical spectrum, genotype-phenotype correlations, and treatment responses in a large cohort of Turkish pediatric patients with genetically confirmed mevalonate kinase deficiency (MKD ...
M. Kaplan, Zahide Ekinci Tekin, Elif Kılıç Könte, Z. Balik, Tuncay Aydın, Ş. Çağlayan, Selen Duygu Arık, T. Kurt, Çisem Yıldız, Yasin Karalı, Rabia Miray Kışla Ekici, M. Çakan, Seyda Dogantan, G. Kılbaş, Burcu Bozkaya Yücel, A. Tanatar, S. Şener, Esra Esen, Nimet Öner, Oya Koker Turan, S. Demir, E. Sağ, Yasemin Demir Yiğit, Özge Baba, Ümmüşen Kaya Akça, S. Taşkın, E. Yayla, Mehmet Yıldız, Deniz Gezgin Yıldırım, A. Kısaarslan, B. Demir, M. Kalyoncu, M. Gürgöze, Selçuk Yüksel, S. S. Kilic, Balahan Bora, B. Sözeri, N. Ayaz, Y. Bilginer, Özgür Kasapçopur, S. Özen, B. Acar   +41 more
semanticscholar   +1 more source

Mevalonate Kinase Deficiency: Diagnostic and Management Challenges

Indian Journal of Pediatrics, 2021
Puneet Kumar Choudhary, Vivek Parihar, Jagatshreya Satapathy, Narendra Kumar Bagri   +3 more
openaire   +2 more sources

411 Periodic fever – unusual cause of Mevalonate kinase deficiency

British Society for Rheumatology, 2023
I. Awan, A. Sridhar
semanticscholar   +1 more source

Comment on "Paradoxical hidradenitis suppurativa induced by adalimumab biosimilar successfully treated with guselkumab in a psoriasis patient" and "Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekin

Clincal and Experimental Dermatology, 2023
Pablo López Sanz, Marta Guzmán Pérez, Claudia Guerrero Ramírez, S. Manso Córdoba, María Encarnación Alfaro Martínez, J. M. Azaña Defez   +5 more
semanticscholar   +1 more source

[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
Junchao Wang, Xing Wei, Zhe Tao
semanticscholar   +1 more source

Mevalonate kinase deficiency diagnosed in late adolescence presenting with macrophage activation syndrome.

Clinical and Experimental Rheumatology
Sevilay Batıbay, Tugce Bozkurt, Elif Dinçses Nas, Selin Cilli Hayıroğlu, E. Kasapoğlu   +4 more
semanticscholar   +1 more source

Challenges in the management of mevalonate kinase deficiency: a case report

XLII Congresso Brasileiro de Reumatologia
Mateus Boteon Della Coletta, T. Fernandes, Claudia Saad Magalhaes   +2 more
semanticscholar   +1 more source

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics

Modern Rheumatology, 2019
Ryuta Nishikomori, Hidemasa Sakai, Nami Okamoto   +2 more
exaly  

A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency

Joint Bone Spine, 2015
Caroline Galeotti, Isabelle Koné-Paut, Maryam Piram   +2 more
exaly