Zobrazeno 1 - 10
of 4 142
pro vyhledávání: '"mevalonate kinase deficiency"'
Autor:
Lengvári L; Paediatric Centre, Semmelweis University, Budapest, Hungary., Takács K; Paediatric Centre, Semmelweis University, Budapest, Hungary., Lengyel A; Paediatric Centre, Semmelweis University, Budapest, Hungary., Pálinkás A; Paediatric Centre, Semmelweis University, Budapest, Hungary., Wouters CH; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Koné-Paut I; Department of Pediatric Rheumatology, National Reference Centre for Rare Autoinflammatory Diseases and Inflammatory Amyloidosis, Centre Hospitalier Universitaire de Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Kuemmerle-Deschner J; Pediatric Rheumatology, Department of Pediatrics and Autoinflammation Reference Center, University Hospital Tuebingen, Tuebingen, Germany., Jeyaratnam J; Division of Woman and Infant, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands., Anton J; Department of Pediatric Rheumatology, Hospital Sant Joan de De´ u, University of Barcelona, Barcelona, Spain., Lachmann HJ; National Amyloidosis Centre, University College London, and Royal Free Hospital London NHS Foundation Trust, London, United Kingdom., Gattorno M; UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto G. Gaslini, Genoa, Italy., Hofer M; Pediatric Rheumatology and Immunology, Hoˆ pital Riviera-Chablais, Rennaz, Switzerland., Toplak N; Department of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia., Weiser P; Division of Rheumatology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, United States., Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charite´ - Universitätsmedizin Berlin, Berlin, Germany., Ozen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Türkiye., Hentgen V; French Reference Center for AutoInflammatory Diseases and Amyloidosis, Department of Pediatrics, Versailles Hospital, Versailles, France., Uziel Y; Pediatric Rheumatology Unit, Meir Medical Center, Tel Aviv University School of Medicine, Tel Aviv, Israel., Horváth Z; Paediatric Centre, Semmelweis University, Budapest, Hungary., Szabados M; Paediatric Centre, Semmelweis University, Budapest, Hungary., Brogan P; Inflammation & Rheumatology Section, UCL Great Ormond St Institute of Child Health, University College London, London, United Kingdom., Constantin T; Paediatric Centre, Semmelweis University, Budapest, Hungary., Frenkel J; Division of Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht, Netherlands.
Publikováno v:
Frontiers in immunology [Front Immunol] 2024 Nov 12; Vol. 15, pp. 1466844. Date of Electronic Publication: 2024 Nov 12 (Print Publication: 2024).
Autor:
Martin C; Faculty of Medecine, Université Catholique de Louvain, Brussels, Belgium., Scheers I; Paediatric Gastroenterology and Hepatology Unit, Department of Paediatrics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium., Triaille C; Pôle de Pathologies Rhumatismales Systémiques et Inflammatoires, Institut de Recherches Expérimentales et Cliniques, Université Catholique de Louvain, Brussels, Belgium., Boulanger C; Genetics of Autoimmune Diseases and Cancer, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; Department of Pediatric Hematology and Oncology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Publikováno v:
Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2024 Sep 01; Vol. 63 (9), pp. e270-e272.
Autor:
Burlo F; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy., Tumminelli C; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy., Pastore S; Institute for Maternal and Child Health, 'IRCCS Burlo Garofolo', Trieste, Italy., Taddio A; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health, 'IRCCS Burlo Garofolo', Trieste, Italy., Girardelli M; Institute for Maternal and Child Health, 'IRCCS Burlo Garofolo', Trieste, Italy., Tommasini A; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health, 'IRCCS Burlo Garofolo', Trieste, Italy.
Publikováno v:
International journal of rheumatic diseases [Int J Rheum Dis] 2024 May; Vol. 27 (5), pp. e15192.
Publikováno v:
JK Science. Jul-Sep2024, Vol. 26 Issue 3, p190-192. 3p.
Autor:
Politiek FA; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Turkenburg M; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, the Netherlands., Henneman L; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, the Netherlands; Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Ofman R; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, the Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands. Electronic address: h.r.waterham@amsterdamumc.nl.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Jun; Vol. 1870 (5), pp. 167177. Date of Electronic Publication: 2024 Apr 16.
Autor:
Esfandiari N; Larner College of Medicine at The University of Vermont, Burlington, Vermont, USA., Vandyke S; Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA., Porter HJ; Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA., Shea K; Four Seasons Dermatology, Colchester, Vermont, USA., Morley K; Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA., Greene L; Department of Pathology and Laboratory Medicine, The University of Vermont Medical Center, Burlington, Vermont, USA.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 298-301. Date of Electronic Publication: 2023 Oct 08.
Akademický článek
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Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations
Autor:
Lilla Lengvári, Kata Takács, Anna Lengyel, Annamária Pálinkás, Carine Helena Wouters, Isabelle Koné-Paut, Jasmin Kuemmerle-Deschner, Jerold Jeyaratnam, Jordi Anton, Helen Jane Lachmann, Marco Gattorno, Michael Hofer, Nataša Toplak, Peter Weiser, Tilmann Kallinich, Seza Ozen, Véronique Hentgen, Yosef Uziel, Zsuzsanna Horváth, Márton Szabados, Paul Brogan, Tamás Constantin, Joost Frenkel
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, incl
Externí odkaz:
https://doaj.org/article/50ca06c45b9242a9b93e17de4599e250
Autor:
Galeotti C; Service de rhumatologie pédiatrique, centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire, CHU de Bicêtre, AP-HP, Le Kremlin- Bicêtre, France.
Publikováno v:
La Revue du praticien [Rev Prat] 2023 Oct; Vol. 73 (8), pp. 850-854.
Autor:
Irwin M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Margaret.Irwin@childrens.harvard.edu., Tanawattanacharoen VK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Turner A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA., Son MBF; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Division of Rheumatology, Boston Children's Hospital, Boston, MA, USA., Hale RC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Division of Immunology, Boston Children's Hospital, Boston, MA, USA., Platt CD; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Division of Immunology, Boston Children's Hospital, Boston, MA, USA., Putra J; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Schmidt BAR; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Wasserman MG; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Division of Hospital Medicine, Boston Children's Hospital, Boston, MA, USA.
Publikováno v:
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Sep 12; Vol. 21 (1), pp. 101. Date of Electronic Publication: 2023 Sep 12.