A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.

Autor: Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA. yutaka.furuta@vumc.org.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA. yutaka.furuta@vumc.org., Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA., Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA., Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA., Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA., Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA., Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 14; Vol. 19 (1), pp. 427. Date of Electronic Publication: 2024 Nov 14.

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

Autor: Slaba K; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic. slaba.katerina@fnbrno.cz., Pokorna P; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic., Jugas R; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic., Palova H; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Prochazkova D; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Aulicka S; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Spanelova K; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Danhofer P; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Horak O; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Tuckova J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Gaillyova R; Department of Medical Genetics and Genomics, University Hospital Brno, Faculty of Medicine, Masaryk University Brno, Brno, Czech Republic., Hrunka M; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Jouza M; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Pinkova B; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Papez J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Konecna P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Zidkova J; Centre of Molecular Biology and Genetics, Department of Hematology, Oncology and Internal Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic., Stourac P; Department of Pediatric Anesthesiology and Intensive Care Medicine, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Department of Simulation Medicine, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Sterba J; Department of Pediatric Oncology, Faculty of Medicine, University Hospital Brno, Masaryk University, Brno, Czech Republic., Demlova R; Department of Pharmacology/CZECRIN, Masaryk University Faculty of Medicine, Brno, Czech Republic., Demlova E; Department of Pharmacology/CZECRIN, Masaryk University Faculty of Medicine, Brno, Czech Republic., Jabandziev P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic.; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Slaby O; Central European Institute of Technology, Masaryk University, Brno, Czech Republic. oslaby@med.muni.cz.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic. oslaby@med.muni.cz.; Center of Precision Medicine, Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic. oslaby@med.muni.cz.

Publikováno v: Scientific reports [Sci Rep] 2024 Nov 20; Vol. 14 (1), pp. 28780. Date of Electronic Publication: 2024 Nov 20.

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

Autor: Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Abstract Background The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS). However, a substantial pr

Externí odkaz: https://doaj.org/article/5009f7b9676c4d17bda5092fd4409131

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.

Autor: Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Loydpierson A; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; University of North Carolina School of Medicine, Chapel Hill, NC, United States of America., Latour YL; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, United States of America; Department of Pathology, Immunology, and Microbiology, Vanderbilt University, Nashville, TN, United States of America., D'Souza P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia., Murphy J; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia., Wolfe L; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Estwick T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States of America., Johnston JM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Yang J; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Acosta MT; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Lee PR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Division of Neurology 2, Office of Neuroscience, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, United States of America., Pierson TM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Departments of Pediatrics and Neurology & The Board of Governors, Regenerative Medicine Institute and the Cedars Sinai Center for the Undiagnosed Patient, Cedars Sinai Medical Center, Los Angeles, CA, United States of America., Soldatos A; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, United States of America., Toro C; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Markello T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Adams DR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America., Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Yousef M; National Institutes of Health Clinical Center, Department of Perioperative Medicine, Pediatric Anesthesiology, Bethesda, MD, United States of America., Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America. Electronic address: cynthiat@mail.nih.gov.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107707. Date of Electronic Publication: 2023 Oct 10.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.