Results 141 to 150 of about 13,572 (204)

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency. [PDF]

Orphanet J Rare Dis
Pugliese A, von Landenberg C, Gallizzi R, Migliorato A, Pierno S, Rodolico C, Kornblum C, Arena IG, Kunz WS, Reimann J, Toscano A, Musumeci O.   +11 more
europepmc   +1 more source

Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report. [PDF]

Turk Arch Pediatr, 2022
Aktaş B, Gümüş D, Tunalı A, Kunter Z, Adrovic A.   +4 more
europepmc   +1 more source

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

Pediatr Rheumatol Online J
Guan C, Wang W, Zhou Q, Sun J, Liu L, Liu L, Sun B, Hou J, Wang X.   +8 more
europepmc   +1 more source

Systematized Linear Porokeratosis, with Underlying Mevalonate Kinase Mutation, Treated with a Combination of Radiosurgery and Oral Acitretin. [PDF]

Indian Dermatol Online J
Ray A, Pulimood SA, Pulimood SA, Thomas M, Danda S, Danda S.   +5 more
europepmc   +1 more source

Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency

, 2011
The inhibition of the mevalonate pathway through genetic defects such as mevalonate kinase deficiency (MKD) or pharmacological drugs such as aminobisphosphonates causes a shortage of intermediate compounds, in particular geranylgeranyl-pyrophosphate ...
MARCUZZI, ANNALISA, Crovella Sergio, Marcuzzi Annalisa, Pontillo Alessandra, PONTILLO, Alessandra, CROVELLA, SERGIO   +5 more
core  

Interleukin-1 antagonists in Mevalonate Kinase Deficiency

Pediatric Rheumatology Online Journal, 2011
Hachulla E, Richer O, Pillet P, Duquesne A, Guillaume S, Rossi-Semerano L, Galeotti C, Koné-Paut I   +7 more
doaj   +1 more source

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations. [PDF]

Front Immunol
Lengvári L, Takács K, Lengyel A, Pálinkás A, Wouters CH, Koné-Paut I, Kuemmerle-Deschner J, Jeyaratnam J, Anton J, Lachmann HJ, Gattorno M, Hofer M, Toplak N, Weiser P, Kallinich T, Ozen S, Hentgen V, Uziel Y, Horváth Z, Szabados M, Brogan P, Constantin T, Frenkel J.   +22 more
europepmc   +1 more source

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist. [PDF]

Arthritis Rheumatol, 2022
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, Benseler S, Berard RA, Broderick L, Dedeoglu F, Diebold M, Durrant K, Ferguson P, Foell D, Hausmann JS, Jones OY, Kastner D, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman HM, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E.   +30 more
europepmc   +1 more source

Structural Characterization and Functional Analysis of Mevalonate Kinase from Tribolium castaneum (Red Flour Beetle). [PDF]

Int J Mol Sci
Zheng H, Yang Y, Hu Y, Shi J, Li Q, Wang Y, Xia Q, Guo P.   +7 more
europepmc   +1 more source

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. [PDF]

Front Immunol
Politiek FA, Turkenburg M, Ofman R, Waterham HR.   +3 more
europepmc   +1 more source