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J Frenkel Selected Research

mevalonate kinase

12/2002Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.
8/2001Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome.
5/2001Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.
4/2001Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
6/2000Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
4/2000[Identification of the gene for hyper-IgD syndrome: a model of modern genetics].

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J Frenkel Research Topics

Disease

10Fever (Fevers)
12/2011 - 04/2000
8Mevalonate Kinase Deficiency
12/2011 - 04/2000
2Inflammation (Inflammations)
06/2003 - 09/2001
1Pyogenic arthritis, pyoderma gangrenosum, and acne
03/2005
1Arthritis (Polyarthritis)
03/2005
1Hereditary Autoinflammatory Diseases
06/2003
1Pre-Eclampsia (Preeclampsia)
03/2001

Drug/Important Bio-Agent (IBA)

6mevalonate kinaseIBA
12/2002 - 04/2000
5EnzymesIBA
12/2011 - 04/2000
4Immunoglobulin D (IgD)IBA
12/2002 - 07/2000
2Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
12/2011 - 03/2005
2Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
12/2002 - 09/2001
1Terpenes (Terpenoids)IBA
06/2003
1Etanercept (Enbrel)FDA Link
12/2002
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
09/2001
1CreatinineIBA
08/2001
1LeukotrienesIBA
08/2001
1Leukotriene E4IBA
08/2001
1Leukotriene Antagonists (Leukotriene Receptor Antagonists)IBA
08/2001
1Immunoglobulins (Immunoglobulin)IBA
05/2001
1activin AIBA
03/2001
1inhibin BIBA
03/2001
1Hormones (Hormone)IBA
03/2001
1inhibin AIBA
03/2001
1ImmunosorbentsIBA
03/2001
1Acute-Phase Proteins (Acute-Phase Protein)IBA
07/2000