Cargando…

Mevalonate kinase deficiency: current perspectives

Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyper...

Descripción completa

Detalles Bibliográficos
Autores principales:	Favier, Leslie A, Schulert, Grant S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2016
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959763/ https://www.ncbi.nlm.nih.gov/pubmed/27499643 http://dx.doi.org/10.2147/TACG.S93933

Ejemplares similares

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
por: Haas, Dorothea, et al.
Publicado: (2006)

Management of Mevalonate Kinase Deficiency: A Pediatric Perspective
por: Jeyaratnam, Jerold, et al.
Publicado: (2020)

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency
por: Rafiq, Nadia K., et al.
Publicado: (2018)

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency
por: Shinar, Y, et al.
Publicado: (2015)

Diagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD)
por: Jeyaratnam, Jerold, et al.
Publicado: (2014)

Natural history of mevalonate kinase deficiency: a literature review
por: Zhang, Shumin
Publicado: (2016)

Mevalonate Kinase Deficiency and Neuroinflammation: Balance between Apoptosis and Pyroptosis
por: Tricarico, Paola Maura, et al.
Publicado: (2013)

Interleukin-1 antagonists in Mevalonate Kinase Deficiency
por: Galeotti, C, et al.
Publicado: (2011)

Weekly oral alendronate in mevalonate kinase deficiency
por: Cantarini, Luca, et al.
Publicado: (2013)

Isolated neurological presentations of mevalonate kinase deficiency
por: Hoytema van Konijnenburg, Eva M. M., et al.
Publicado: (2022)

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
por: Mulders-Manders, C. M., et al.
Publicado: (2015)

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra
por: Peciuliene, Skaiste, et al.
Publicado: (2016)

PW03-021 - HSCT in mevalonate kinase deficiency
por: Wolska-Kuśnierz, B, et al.
Publicado: (2013)

OR11-001 - Protein misfolding in mevalonate kinase deficiency
por: Stojanov, S, et al.
Publicado: (2013)

Mevalonate kinase deficiency and IBD: shared genetic background
por: Bianco, Anna Monica, et al.
Publicado: (2014)

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
por: Politiek, Frouwkje A., et al.
Publicado: (2021)

Mevalonate kinase deficiency: an early onset inflammatory bowel disease?
por: Martins, A, et al.
Publicado: (2015)

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency
por: Ruiz-Ortiz, E, et al.
Publicado: (2015)

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency
por: Jeyaratnam, J, et al.
Publicado: (2015)

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases
por: Jurczyluk, Julie, et al.
Publicado: (2016)

Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)
por: Jeyaratnam, J, et al.
Publicado: (2015)

PW02-020 - Colitis revealing mevalonate kinase deficiency
por: Michael, L, et al.
Publicado: (2013)

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency
por: Munoz, Marcia A., et al.
Publicado: (2019)

A case of neonatal sweet syndrome associated with mevalonate kinase deficiency
por: Irwin, Margaret, et al.
Publicado: (2023)

Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency
por: Nakashimai, Hideyuki, et al.
Publicado: (2016)

Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
por: Henneman, L., et al.
Publicado: (2010)

Temperature and Drug Treatments in Mevalonate Kinase Deficiency: An Ex Vivo Study
por: Tricarico, Paola Maura, et al.
Publicado: (2013)

Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency()
por: Bifulco, Maurizio
Publicado: (2015)

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency
por: Jeyaratnam, Jerold, et al.
Publicado: (2022)

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis
por: Pereira-Nunes, Joana, et al.
Publicado: (2023)

Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency
por: Souali, Manal, et al.
Publicado: (2023)

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
por: Omoyinmi, Ebun, et al.
Publicado: (2021)

PReS-FINAL-2212: Mevalonate kinase deficiency: different faces with separate treatments
por: Gençpınar, P, et al.
Publicado: (2013)

Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation
por: Rimondi, Erika, et al.
Publicado: (2021)

PReS-FINAL-2335: Preliminary analysis of 85 patients with mevalonate kinase deficiency from the eurofever registry
por: Ter Haar, N, et al.
Publicado: (2013)

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency
por: Munoz, Marcia A., et al.
Publicado: (2022)

The mevalonate pathway in C. Elegans
por: Rauthan, Manish, et al.
Publicado: (2011)

Mevalonate kinase deficiency (MKD): long-term follow-up of clinical and biological features in 40 patients
por: Florkin, B, et al.
Publicado: (2008)

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency
por: Carapito, Raphael, et al.
Publicado: (2018)

Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis
por: Pisanti, Simona, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_2pfu2se2krog4ul5jm1abmuua5