Zobrazeno 1 - 10
of 1 415
pro vyhledávání: '"MEVALONATE KINASE-DEFICIENCY"'
Autor:
Alicea-Negrón AJ; University of Puerto Rico School of Medicine, San Juan, PR., Toledo-García M; Puerto Rico Women and Children's Hospital, Bayamón, PR., Torres-Quiñones M; HRP Labs - Hato Rey Pathology Associates, Inc., San Juan, PR., López-Martínez A; San Jorge Children and Women's Hospital, San Juan, PR., González-Chávez JR; Ponce Health Sciences University School of Medicine, Ponce, PR.
Publikováno v:
Puerto Rico health sciences journal [P R Health Sci J] 2024 Sep; Vol. 43 (3), pp. 156-158.
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:
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:
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.
Publikováno v:
Arthritis research & therapy [Arthritis Res Ther] 2024 Apr 08; Vol. 26 (1), pp. 80. Date of Electronic Publication: 2024 Apr 08.
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.
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.
Autor:
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.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 302-316. Date of Electronic Publication: 2023 Dec 22.
Autor:
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.
Publikováno v:
Frontiers in immunology [Front Immunol] 2024 Mar 14; Vol. 15, pp. 1379220. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).
Autor:
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.
Publikováno v:
Paediatric drugs [Paediatr Drugs] 2024 Mar; Vol. 26 (2), pp. 113-126. Date of Electronic Publication: 2024 Feb 20.
Autor:
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.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 302-307. Date of Electronic Publication: 2023 Nov 28.