about
Mevalonate kinase deficiency: current perspectivesNatural history of mevalonate kinase deficiency: a literature reviewThe diagnostic approach to monogenic very early onset inflammatory bowel diseasePerinatal manifestation of mevalonate kinase deficiency and efficacy of anakinraGenetics of inflammatory bowel disease from multifactorial to monogenic formsWorking the endless puzzle of hereditary autoinflammatory disorders.Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory DiseasesHistopathologic features in a case of hyperimmunoglobulinemia D syndrome.Granulomas Formation in Lymph Nodes, Liver and Spleen in Adult-Onset Still's Disease: A Case Report.Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase DeficiencyDiagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).Biological treatments: new weapons in the management of monogenic autoinflammatory disordersMonogenic autoinflammatory diseases: concept and clinical manifestations.Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issuesMonogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.Skin symptoms as diagnostic clue for autoinflammatory diseases.Sterol metabolism disorders and neurodevelopment-an update.Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease.Ocular involvement in primary immunodeficiency diseases.Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.Monogenic autoinflammatory diseases.Inborn errors of metabolism underlying primary immunodeficiencies.Untangling the web of systemic autoinflammatory diseases.Current advances in the understanding and treatment of mevalonate kinase deficiency.Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.Recommendations for the management of autoinflammatory diseases.Genetically defined autoinflammatory diseases.A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.Periodontal and other oral manifestations of immunodeficiency diseases.Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.Evidence of digenic inheritance in autoinflammation-associated genes.Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.PW02-020 - Colitis revealing mevalonate kinase deficiency.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Mevalonate kinase deficiency: a survey of 50 patients.
@en
Mevalonate kinase deficiency: a survey of 50 patients.
@nl
type
label
Mevalonate kinase deficiency: a survey of 50 patients.
@en
Mevalonate kinase deficiency: a survey of 50 patients.
@nl
prefLabel
Mevalonate kinase deficiency: a survey of 50 patients.
@en
Mevalonate kinase deficiency: a survey of 50 patients.
@nl
P2093
P50
P356
P1433
P1476
Mevalonate kinase deficiency: a survey of 50 patients.
@en
P2093
Alexis Mathian
Anne-Marie Prieur
Benoit Florkin
Bénédicte Neven
CRI (Club Rhumatismes et Inflammations)
Claire Michèle Farber
Cécile Acquaviva
Cécile Laroche
Daniel Rabier
Gilles Grateau
P304
P356
10.1542/PEDS.2010-3639
P407
P577
2011-06-27T00:00:00Z