Mevalonate Kinase Deficiency Latest Advances

Find the Latest Research About Mevalonate Kinase Deficiency

Last Updated: 09/26/2026

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Found 479 publications

AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral-centre study.

AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral-centre study.

Journal: Journal of internal medicine
Published: September 08, 2026

AA Challenge: An interactive French-language educational program on the causes of AA amyloidosis - Analysis of 2,597 responses to 12 clinical quizzes

AA Challenge: An interactive French-language educational program on the causes of AA amyloidosis - Analysis of 2,597 responses to 12 clinical quizzes

Journal: Nephrologie & therapeutique
Published: September 07, 2026

Biologic-biologic and biologic-JAK inhibitor combination therapy in refractory systemic autoinflammatory diseases.

Biologic-biologic and biologic-JAK inhibitor combination therapy in refractory systemic autoinflammatory diseases.

Journal: Seminars in arthritis and rheumatism
Published: July 06, 2026

Choroidal and Retinal Imaging Findings in Childhood-Onset Mevalonate Kinase Deficiency: An OCT-Based Case-Control Study.

Choroidal and Retinal Imaging Findings in Childhood-Onset Mevalonate Kinase Deficiency: An OCT-Based Case-Control Study.

Journal: Ocular immunology and inflammation
Published: June 30, 2026

Trained immunity in autoinflammatory diseases: Cellular reprogramming across the monogenic-polygenic spectrum.

Trained immunity in autoinflammatory diseases: Cellular reprogramming across the monogenic-polygenic spectrum.

Journal: European journal of cell biology
Published: May 25, 2026

Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant.

Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant.

Journal: Frontiers in pediatrics
Published: May 22, 2026

Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report.

Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report.

Journal: Cureus
Published: April 23, 2026

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.

Journal: Genes
Published: March 03, 2026

A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient.

A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient.

Journal: Ocular immunology and inflammation
Published: February 04, 2026

Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.

Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.

Journal: Expert review of clinical immunology
Published: February 01, 2026

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.

Journal: Frontiers in immunology
Published: December 22, 2025

Effective interleukin-6 inhibition in a pediatric patient with mevalonate kinase deficiency and chronic nonbacterial osteomyelitis-like bone lesions under interleukin-1 blockade.

Effective interleukin-6 inhibition in a pediatric patient with mevalonate kinase deficiency and chronic nonbacterial osteomyelitis-like bone lesions under interleukin-1 blockade.

Journal: The Turkish journal of pediatrics
Published: December 01, 2025
Showing 1-12 of 479

Last Updated: 09/26/2026