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Last Updated: 01/07/2026

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Found 460 publications

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

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

Journal: Clinical and experimental rheumatology
Published: August 07, 2025

Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.

Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.

Journal: Journal of neuropathology and experimental neurology
Published: July 31, 2025

Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.

Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.

Journal: Frontiers in immunology
Published: July 03, 2025

Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.

Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.

Journal: Pediatric dermatology
Published: May 21, 2025

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.

Journal: Pediatric rheumatology online journal
Published: May 08, 2025

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Journal: The Turkish journal of pediatrics
Published: March 08, 2025

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.

Journal: Pediatric rheumatology online journal
Published: February 25, 2025

Unmasking Mevalonate Kinase Deficiency in a Neonate with Brain Abscess.

Unmasking Mevalonate Kinase Deficiency in a Neonate with Brain Abscess.

Journal: Indian journal of pediatrics
Published: February 11, 2025

Canakinumab treatment patterns in sJIA, FMF, TRAPS, and MKD/HIDS: real-world insights from a Belgian non-interventional study.

Canakinumab treatment patterns in sJIA, FMF, TRAPS, and MKD/HIDS: real-world insights from a Belgian non-interventional study.

Journal: BMC rheumatology
Published: February 07, 2025

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis.

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis.

Journal: Ginekologia polska
Published: January 28, 2025

Off-Label Use of Anakinra in Inflammatory Conditions in Neonates and Infants Up to 3 Months of Age: A Case Series and a Review of the Literature.

Off-Label Use of Anakinra in Inflammatory Conditions in Neonates and Infants Up to 3 Months of Age: A Case Series and a Review of the Literature.

Journal: Paediatric drugs
Published: December 19, 2024

Monogenic autoinflammatory uveitis

Monogenic autoinflammatory uveitis

Journal: La Revue de medecine interne
Published: November 21, 2024
Showing 1-12 of 460

Last Updated: 01/07/2026