Biochemical and genetic aspects of mevalonate kinase and its deficiency
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Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of DiseasePerinatal manifestation of mevalonate kinase deficiency and efficacy of anakinraWorking the endless puzzle of hereditary autoinflammatory disorders.Smith-Lemli-Opitz syndrome and the DHCR7 gene.Mechanisms for cellular cholesterol transport: defects and human disease.Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issuesSufficient production of geranylgeraniol is required to maintain endotoxin tolerance in macrophages.Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAPHyperimmunoglobulin D syndrome in childhood.Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.Clinical and biochemical landmarks in systemic autoinflammatory diseases.The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.Posttranslational Modification as a Critical Determinant of Cytoplasmic Innate Immune Recognition.The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency.Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever.In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.Staphylococcus aureus mevalonate kinase: isolation and characterization of an enzyme of the isoprenoid biosynthetic pathway.Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.Enterococcus faecalis mevalonate kinase.Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency.Computational model for monitoring cholesterol metabolism.Characterization of feedback-resistant mevalonate kinases from the methanogenic archaeons Methanosaeta concilii and Methanocella paludicola.Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.Inherited disorders of cholesterol biosynthesisPatient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation
P2860
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P2860
Biochemical and genetic aspects of mevalonate kinase and its deficiency
description
2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
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name
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@ast
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@en
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@nl
type
label
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@ast
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@en
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@nl
prefLabel
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@ast
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@en
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@nl
P3181
P1476
Biochemical and genetic aspects of mevalonate kinase and its deficiency
@en
P2093
H R Waterham
R J Wanders
P3181
P356
10.1016/S1388-1981(00)00135-9
P407
P577
2000-12-01T00:00:00Z