About: Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

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About: Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1097/MD.0b013e318190cfb7
Description	The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). one of the autoinflammatory syndromes, is caused by Mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. fit addition. we studied the quality of lite Mid Course of life in a selection of patients. Follow-up data were obtained by a questionnaire sent to all physicians of patients in the international HIDS Database. In addition. we assessed the course of life and quality of life in Dutch patients aged >16 years using validated quality of life instruments. The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). one of the autoinflammatory syndromes, is caused by Mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. fit addition. we studied the quality of lite Mid Course of life in a selection of patients. Follow-up data were obtained by a questionnaire sent to all physicians of patients in the international HIDS Database. In addition. we assessed the course of life and quality of life in Dutch patients aged >16 years using validated quality of life instruments. (en)
Title	Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome (en)
skos:prefLabel	Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome (en)
skos:notation	RIV/00216208:11130/08:5057!RIV13-MSM-11130___
http://linked.open...avai/riv/aktivita	V
http://linked.open...avai/riv/aktivity	V
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Pohunek, Petr
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	377138
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/08:5057
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	periodic fever syndrome; familial mediterranean fever; hyper-igd syndrome; mevalonate kinase-deficiency; interleukin-1-beta secretion; diagnostic-value; syndrome hids; health-status; mutations; spectrum (en)
http://linked.open.../riv/klicoveSlovo	diagnostic-value familial mediterranean fever hyper-igd syndrome interleukin-1-beta secretion mevalonate kinase-deficiency periodic fever syndrome syndrome hids mutations health-status spectrum
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[9ABF85D3C30B]
http://linked.open...i/riv/nazevZdroje	Medicine
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	41 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	87
http://linked.open...iv/tvurceVysledku	Pohunek, Petr Frenkel, J. Koné-Paut, I. Topaloglu, R. Merlini, G. Simon, A. Powell, R. J. McDermott, L. Hammoudeh, M. Armbrust, W. Arnal Guimera, MC Barron, KS Bijlsma, JW Bodar, EJ Darina, S. David, JJ Drenth, J. P. Ellison, JW Fisher, NC Gardner-Medwin, J. Granowitz, EV Hawkins, PN Hendrickxs, G. Jilek, D. Knockaert, DC Lachmann, H. J. Lawrence, A. Moira, T. Obici, L. Pillet, P. Rippel, S. Saulsbury, FT Schreuder, MC Scolozzi, R. M. Touitou, I. Tribolet de Abreu, T. Vaclava, K. Vahab, A. van Deuren, M. van der Hilst, JC van der Meer, JW
http://linked.open...ain/vavai/riv/wos	000260978100001
issn	0025-7974
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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