المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE

مواضيع طبية MeSH: Mevalonate Kinase Deficiency*/genetics , Mevalonate Kinase Deficiency*/metabolism , Mevalonate Kinase Deficiency*/pathology , Fibroblasts*/metabolism , Fibroblasts*/pathology, Humans ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism ; Phosphotransferases (Alcohol Group Acceptor)/deficiency ; Cells, Cultured ; Signal Transduction

المؤلفون: 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.

المصدر: International journal of rheumatic diseases [Int J Rheum Dis] 2024 May; Vol. 27 (5), pp. e15192.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model: Print Cited Medium: Internet ISSN: 1756-185X (Electronic) Linking ISSN: 17561841 NLM ISO Abbreviation: Int J Rheum Dis Subsets: MEDLINE

مواضيع طبية MeSH: Antibodies, Monoclonal, Humanized*/therapeutic use , Mevalonate Kinase Deficiency*/drug therapy , Mevalonate Kinase Deficiency*/diagnosis, Humans ; Treatment Outcome ; Female ; Male ; Time Factors ; Adolescent ; Child ; Interleukin-1beta/antagonists & inhibitors ; Interleukin-1beta/blood ; Genetic Predisposition to Disease

المؤلفون: Politiek FA; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Turkenburg M; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, the Netherlands., Koster J; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, the Netherlands., Ofman R; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, the Netherlands., Waterham HR; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 302-316. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Mevalonate Kinase Deficiency*/drug therapy , Mevalonate Kinase Deficiency*/genetics, Humans ; HeLa Cells ; Receptors, Glucocorticoid/therapeutic use ; Sterol Regulatory Element Binding Protein 1 ; Phosphotransferases (Alcohol Group Acceptor)

المؤلفون: 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.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 298-301. Date of Electronic Publication: 2023 Oct 08.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Sweet Syndrome* , Mevalonate Kinase Deficiency*/complications , Mevalonate Kinase Deficiency*/diagnosis , Mevalonate Kinase Deficiency*/drug therapy , Vasculitis, Leukocytoclastic, Cutaneous* , Inflammatory Bowel Diseases*/complications , Inflammatory Bowel Diseases*/diagnosis , Inflammatory Bowel Diseases*/drug therapy, Infant, Newborn ; Humans

المؤلفون: Jairaman A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Badiger VA; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Raj S; Department of Rheumatology and Clinical Immunology, Amrita Institute of Medical Sciences, Kochi, India., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Balan S; Department of Rheumatology and Clinical Immunology, Amrita Institute of Medical Sciences, Kochi, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.; DBT-Wellcome Trust India Alliance Early Career Clinical and Public Health Research Fellow, Hyderabad, India.

المصدر: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 302-307. Date of Electronic Publication: 2023 Nov 28.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mevalonate Kinase Deficiency*/genetics , Mevalonate Kinase Deficiency*/metabolism, Child ; Humans ; Genotype ; Phenotype ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism ; Phosphotransferases (Phosphate Group Acceptor)/genetics

المؤلفون: Koné-Paut I; Pediatric Rheumatology Department, APHP, Bicêtre Hospital, University of Paris Saclay, Kremlin Bicêtre, France.; CEREMAIA (French reference center for auto-inflammatory diseases and inflammatory amyloidosis), RITA network member, Paris, France., Georgin-Lavialle S; CEREMAIA (French reference center for auto-inflammatory diseases and inflammatory amyloidosis), RITA network member, Paris, France.; Department of Internal Medicine, Sorbonne University, Tenon Hospital (APHP), Paris, France., Belot A; Pediatric Nephrology Rheumatology and Dermatology, CHU Lyon, Lyon, France.; RAISE (French reference center for inflammatory rheumatism and systemic autoimmune diseases in children), Paris, France., Jover M; Novartis Pharma, Rueil-Malmaison, France., Pouriel M; IT&M STATS, on behalf of Novartis, Neuilly-sur- Seine, France., Lacoin L; Epi-Fit, Bordeaux, France., Pillet P; RAISE (French reference center for inflammatory rheumatism and systemic autoimmune diseases in children), Paris, France.; Pediatrics and Immunology, CHU Pellegrin, Bordeaux, France., Hentgen V; CEREMAIA (French reference center for auto-inflammatory diseases and inflammatory amyloidosis), RITA network member, Paris, France. vhentgen@ght78sud.fr.; General Pediatrics, Versailles Hospital, Versailles, France. vhentgen@ght78sud.fr.; CeRéMAIA - site constitutif CH Versailles Service de pédiatrie, 177, rue de Versailles, Le Chesnay, 78150, France. vhentgen@ght78sud.fr.

المصدر: Arthritis research & therapy [Arthritis Res Ther] 2024 Apr 08; Vol. 26 (1), pp. 80. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101154438 Publication Model: Electronic Cited Medium: Internet ISSN: 1478-6362 (Electronic) Linking ISSN: 14786354 NLM ISO Abbreviation: Arthritis Res Ther Subsets: MEDLINE

مواضيع طبية MeSH: Hereditary Autoinflammatory Diseases* , Familial Mediterranean Fever*/drug therapy , Familial Mediterranean Fever*/genetics , Familial Mediterranean Fever*/diagnosis , Mevalonate Kinase Deficiency*/drug therapy , Mevalonate Kinase Deficiency*/genetics , Mevalonate Kinase Deficiency*/diagnosis, Humans ; Antibodies, Monoclonal, Humanized/therapeutic use ; Syndrome

المؤلفون: Politiek FA; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, Netherlands., Turkenburg M; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, Netherlands., Ofman R; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam, Netherlands.

المصدر: Frontiers in immunology [Front Immunol] 2024 Mar 14; Vol. 15, pp. 1379220. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Lipopolysaccharides*/metabolism , Mevalonate Kinase Deficiency*/metabolism , Phosphotransferases (Alcohol Group Acceptor)*, Humans ; THP-1 Cells ; Phenotype ; Oxidative Phosphorylation

المؤلفون: Cetin Gedik K; Division of Pediatric Rheumatology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. cetingedikk@upmc.edu.; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. cetingedikk@upmc.edu., Arici ZS; Division of Rheumatology, Malatya Training and Research Hospital, Malatya, Turkey., Kul Cinar O; Department of Paediatric Rheumatology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK., Garcia-Bournissen F; Department of Pediatrics, Division of Pediatric Pharmacology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, N6A 5W9, Canada., Romano M; Department of Pediatrics, Division of Pediatric Pharmacology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, N6A 5W9, Canada.; Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID), University of Western Ontario, London, ON, N6A 4V2, Canada., Demirkaya E; Department of Pediatrics, Division of Pediatric Pharmacology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, N6A 5W9, Canada.; Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID), University of Western Ontario, London, ON, N6A 4V2, Canada.; Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, N6A 5W9, Canada.

المصدر: Paediatric drugs [Paediatr Drugs] 2024 Mar; Vol. 26 (2), pp. 113-126. Date of Electronic Publication: 2024 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Switzerland NLM ID: 100883685 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2019 (Electronic) Linking ISSN: 11745878 NLM ISO Abbreviation: Paediatr Drugs Subsets: MEDLINE

مواضيع طبية MeSH: Cryopyrin-Associated Periodic Syndromes*/diagnosis , Cryopyrin-Associated Periodic Syndromes*/drug therapy , Cryopyrin-Associated Periodic Syndromes*/genetics , Mevalonate Kinase Deficiency*/diagnosis , Mevalonate Kinase Deficiency*/genetics , Mevalonate Kinase Deficiency*/therapy , Hereditary Autoinflammatory Diseases*/diagnosis , Hereditary Autoinflammatory Diseases*/drug therapy , Hereditary Autoinflammatory Diseases*/genetics , Simian Acquired Immunodeficiency Syndrome*/drug therapy, Animals ; Humans ; Interleukin-1/therapeutic use ; Interleukin 1 Receptor Antagonist Protein/therapeutic use

المؤلفون: Kuemmerle-Deschner JB; Division of Paediatric Rheumatology and autoinflammation reference centre Tübingen, Department of Paediatrics, University Hospital Tübingen, Tübingen, Germany Jasmin.Kuemmerle-Deschner@med.uni-tuebingen.de., Kallinich T; Department of Paediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin and Deutsches Rheuma-Forschungszentrum (DRFZ), an Institute of the Leibniz Association, Berlin, Germany., Henes J; Center of Interdisciplinary Rheumatology, Immunology and autoimmune diseases (INDIRA), University Hospital Tübingen, Tübingen, Germany., Kortus-Götze B; Department of Internal Medicine, Division of Nephrology, University Hospital of Giessen and Marburg, Marburg, Germany., Oommen PT; Department of Paediatric Oncology, Haematology and Clinical Immunology, Division of Paediatric Rheumatology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Rech J; Department of Internal Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander University (FAU) Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany.; DZI (Deutsches Zentrum für Immuntherapie), Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Krickau T; DZI (Deutsches Zentrum für Immuntherapie), Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Department of Pediatric Rheumatology, University Hospital Erlangen, Erlangen, Germany., Weller-Heinemann F; Division of Paediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Germany., Horneff G; Department of Paediatrics, Asklepios Kinderklinik Sankt Augustin, Sankt Augustin, Germany.; Department of Paediatric and Adolescent Medicine, Medical Faculty, University Hospital of Cologne, Cologne, Germany., Janda A; Department of Paediatrics and Adolescent Medicine, University Medical Centre Ulm, Ulm, Germany., Foeldvari I; Hamburg Centre for Paediatric and Adolescence Rheumatology, Hamburg, Germany., Schuetz C; Department of Paediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Dressler F; Department of Paediatric Pneumonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany., Borte M; Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany.; Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany., Hufnagel M; Division of Paediatric Infectious Diseases and Rheumatology, Department of Paediatrics and Adolescent Medicine, University Medical Centre, Medical Faculty, University of Freiburg, Freiburg, Germany., Meier F; Department of Medicine II, Rheumatology, University Hospital Frankfurt, Goethe University, Frankfurt, Germany., Fiene M; Rheumazentrum Greifswald, Greifswald, Germany.; Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Paediatrics, Erlangen, Germany., Andreica I; Rheumazentrum Ruhrgebiet Herne, Ruhr-Universität Bochum, Bochum, Germany., Weber-Arden J; Novartis Pharma GmbH, Nürnberg, Germany., Blank N; Division of Rheumatology, Department of Internal Medicine, University Hospital Heidelberg, Heidelberg, Germany.

المصدر: RMD open [RMD Open] 2024 Feb 15; Vol. 10 (1). Date of Electronic Publication: 2024 Feb 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101662038 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-5933 (Electronic) Linking ISSN: 20565933 NLM ISO Abbreviation: RMD Open Subsets: MEDLINE

مواضيع طبية MeSH: Familial Mediterranean Fever*/drug therapy , Cryopyrin-Associated Periodic Syndromes*/diagnosis , Cryopyrin-Associated Periodic Syndromes*/drug therapy , Mevalonate Kinase Deficiency*/drug therapy , Mevalonate Kinase Deficiency*/etiology , Antibodies, Monoclonal, Humanized*, Adult ; Humans ; Child ; Female ; Adolescent ; Male ; Prospective Studies ; Quality of Life ; Registries

المؤلفون: Li Y; Department of Rheumatology Immunology and Allergy, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Heath, NO.3333, Bin-sheng Road, 310052, Hangzhou, China., Lu M; Department of Rheumatology Immunology and Allergy, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Heath, NO.3333, Bin-sheng Road, 310052, Hangzhou, China. meipinglu@zju.edu.cn.

المصدر: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2024 Jan 05; Vol. 22 (1), pp. 11. Date of Electronic Publication: 2024 Jan 05.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096 (Electronic) Linking ISSN: 15460096 NLM ISO Abbreviation: Pediatr Rheumatol Online J Subsets: MEDLINE

مواضيع طبية MeSH: Mevalonate Kinase Deficiency*/drug therapy , Simian Acquired Immunodeficiency Syndrome* , Exanthema*/drug therapy , Exanthema*/etiology, Child ; Animals ; Humans ; Interleukin-6 ; Quality of Life ; Tumor Necrosis Factor-alpha ; C-Reactive Protein ; Interleukin-1

SCR Disease Name: Periodic fever, familial, autosomal dominant