Results 71 to 80 of about 12,260 (143)

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

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

Clinical, Cosmetic and Investigational Dermatology
Xiuping Wang,1 Xiaoliang Ouyang,2 Deng Zhang,1 Yunxia Zhu,1 Liang Wu,1 Zhen Xiao,3 Simin Yu,1 Wei Li,2 Chunming Li1 1Department of Dermatology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China ...
Wang X, Ouyang X, Zhang D, Zhu Y, Wu L, Xiao Z, Yu S, Li W, Li C   +8 more
doaj  

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

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

Mevalonic Kinase: Purification and Properties

Journal of Biological Chemistry, 1958
openaire   +2 more sources

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