Results 111 to 120 of about 29,180 (194)

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]

Mol Syndromol, 2022
Koç Yekedüz M, Doğulu N, Öncül Ü, Köse E, Ceylaner S, Eminoğlu FT.   +5 more
europepmc   +1 more source

Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis. [PDF]

Int J Environ Res Public Health, 2021
Pisanti S, Citro M, Abate M, Caputo M, Martinelli R.   +4 more
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

On-demand anakinra treatment is effective in mevalonate kinase deficiency

, 2011
Contains fulltext : 98172.pdf (Publisher’s version ) (Open Access)BACKGROUND: Mevalonate kinase deficiency (MKD) is a hereditary autoinflammatory syndrome marked by recurrent attacks of fever and inflammation.
Kuijk, L.M., J. P. H. Drenth, Bodar, E.J., Drenth, J.P.H., Simon, A., E. J. Bodar, Meer, J.W.M. van der, A. Simon, J. Frenkel, J. W. M. van der Meer, Frenkel, J., L. M. Kuijk   +11 more
core   +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

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  

Mevalonate Kinase Deficiency [PDF]

, 2020
openaire   +1 more source

Mevalonate Kinase Deficiency as A Cause of Periodic Fever- A Report of Two Cases

JK Science
Mevalonate kinase deficiency (MKD) is an exceedingly rare autosomal recessive inborn metabolism error characterized by mutations in the MVK gene, leading to impaired synthesis of cholesterol and isoprenoids.
Hema Sameera Pinnam, Mahabaleshwar Mamadapur, Sabarinath Mahadevan, Varuni Pragya   +3 more
doaj  

Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry

Rheumatology and Therapy
Introduction Interim analysis of the long-term safety and effectiveness of canakinumab, at a patient level, in the mevalonate kinase deficiency/hyperimmunoglobulin-D syndrome (MKD/HIDS) cohort of the RELIANCE registry.
Prasad T. Oommen, Tilmann Kallinich, Juergen Rech, Norbert Blank, Julia Weber-Arden, Jasmin B. Kuemmerle-Deschner   +5 more
doaj   +1 more source

Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab

, 2020
Canakinumab is a human monoclonal antibody anti-interleukin-1β, it is the only biologic drug approved to treat mevalonate kinase deficiency (MKD). Canakinumab injection can trigger several local cutaneous reactions, but also chronic-relapsing skin ...
Conte, Mariasole, Tommasini, Alberto, Pastore, Serena, Taddio, Andrea, Berti, Irene   +4 more
core