Results 141 to 150 of about 28,306 (175)

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

Mevalonate kinase deficiency and Dutch type periodic fever.

Clinical and experimental rheumatology, 2000
Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied
Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J., Rijkers, G. T., Kimpen, J. L., Duran, R., Poll-The, B. T., Kuis, W.   +8 more
openaire   +3 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

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

Cellular functions of the protein kinase ATM and their relevance to human disease

Nature Reviews Molecular Cell Biology, 2021
Ji-Hoon Lee, Tanya T Paull
exaly  

Unmasking Mevalonate Kinase Deficiency in a Neonate with Brain Abscess

Indian Journal of Pediatrics
Anurupa Popuri, Nikhil Rajvanshi, Nagaraja Venigalla   +2 more
semanticscholar   +1 more source

Iron deficiency

Lancet, The, 2021
Sant Rayn S Pasricha, Jason A Tye-Din, Martina U Muckenthaler   +2 more
exaly  

Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.

Journal of Neuropathology and Experimental Neurology
Alexander Lokken, Eric Goold, Jessica M. Comstock, Changhong Xing   +3 more
semanticscholar   +1 more source