Zobrazeno 1 - 10
of 395
pro vyhledávání: '"Salvarinova, R."'
Publikováno v:
In Molecular Genetics and Metabolism Reports June 2021 27
Autor:
Boutin RCT; Provincial Medical Genetics Program, British Columbia Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Shobeirian F; Department of Pediatric Radiology, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Adam S; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Lehman A; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, British Columbia, Canada., Salvarinova R; Division of Biochemical Genetics, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Friedman JM; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec 04, pp. e63949. Date of Electronic Publication: 2024 Dec 04.
Akademický článek
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Autor:
Yeganeh M; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., March K; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., Jones C; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., Ho G; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., Selby KA; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, V6H 3N1, BC, Canada., Chanoine JP; Division of Endocrinology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, V6H 3N1, BC, Canada., Stockler S; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., Salvarinova R; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., Horvath G; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada., Brunel-Guitton C; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver V6H 3N1, BC, Canada.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Mar 10; Vol. 35, pp. 100961. Date of Electronic Publication: 2023 Mar 10 (Print Publication: 2023).
Autor:
Turki A; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada., Stockler S; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Sirrs S; Department of Medicine, Division of Endocrinology, University of British Columbia, Vancouver, British Columbia, Canada.; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Salvarinova R; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Ho G; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Branov J; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Rosen-Heath A; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Bosdet T; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Elango R; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 May 11; Vol. 31, pp. 100880. Date of Electronic Publication: 2022 May 11 (Print Publication: 2022).
Autor:
Rahimi MJ; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany., Urban N; Rudolf-Boehm-Institute of Pharmacology and Toxicology, University of Leipzig Hospitals and Clinics, Leipzig 04107, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Schaefer M; Rudolf-Boehm-Institute of Pharmacology and Toxicology, University of Leipzig Hospitals and Clinics, Leipzig 04107, Germany., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany., Gaunitz F; Department of Neurosurgery, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany., Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples 80138, Italy., Nigro V; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples 80138, Italy., Maitz S; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, Monza 20900, Italy., Mancini GMS; ErasmusMC University Medical Center, Department of Clinical Genetics, Rotterdam 3015, the Netherlands., Ruivenkamp C; Leiden University Medical Center, Clinical Genetics, Leiden 2333, the Netherlands., Suk EK; Praxis für Humangenetik-Friedrichstrasse, Berlin 10117, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen 72076, Germany., Merkenschlager A; Department of Neuropediatrics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany., Koboldt D; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA., Bartholomew D; Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht 6229, the Netherlands., Duynisveld I; Severinus Institute for Intellectual Disability, 5507 Veldhoven, the Netherlands., Salvarinova R; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Race S; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands., Trimouille A; Service de Pathologie Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33000, France; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux 33076, France., Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33076, France., Marom D; The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Hamiel U; The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Henig N; The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Demurger F; Service de Génértique, CHBA, Vannes 56000, France., Rahner N; Institute for Clinical Genetics, Bonn 53111, Germany., Bartels E; Institute for Clinical Genetics, Bonn 53111, Germany., Hamm JA; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA., Putnam AM; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA., Person R; Clinical Genomics Program, GeneDx, Inc., Gaithersburg, MD 20877, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany. Electronic address: henry.oppermann@medizin.uni-leipzig.de.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 May 05; Vol. 109 (5), pp. 944-952. Date of Electronic Publication: 2022 Mar 30.
Autor:
Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Women's Health Research Institute, Vancouver, BC, Canada., Adam S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Nelson TN; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada., van Karnebeek C; Department of Pediatrics, Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.; Department of Pediatrics, Emma Children's Hospital, Amsterdam, University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Alderman E; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Aubertin G; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Blood K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Boelman C; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Boerkoel C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Bretherick K; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada., Brown L; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada., Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Clarke L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Couse M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Creighton S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Watts-Dickens A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Gill H; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Tarailo-Graovac M; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Hamilton S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Heran H; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Horvath G; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Huang L; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada., Hulait GK; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Koehn D; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Lee HK; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Lewis S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Lopez E; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Louie K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Niederhoffer K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Matthews A; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada., Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Peng JJ; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Race S; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Richmond P; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Rupps R; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Salvarinova R; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Seath K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Selby K; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Stockler S; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Tang K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Tyson C; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada., van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Wasserman W; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pediatrics, Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada., Mwenifumbo J; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
Publikováno v:
HGG advances [HGG Adv] 2022 Apr 18; Vol. 3 (3), pp. 100108. Date of Electronic Publication: 2022 Apr 18 (Print Publication: 2022).
Autor:
Lausberg E; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Gießelmann S; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Dewulf JP; Laboratory of Physiological Chemistry, de Duve Institute and.; Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Wiame E; Laboratory of Physiological Chemistry, de Duve Institute and., Holz A; CeGaT GmbH and Praxis für Humangenetik, Tübingen, Germany., Salvarinova R; Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital Vancouver, Vancouver, British Columbia, Canada.; British Columbia Children's Hospital Research Institute, University of British Columbia (UBC), Vancouver, British Columbia, Canada., van Karnebeek CD; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, UBC, Vancouver, British Columbia, Canada., Klemm P; Department of Pediatrics, Medical Faculty., Ohl K; Department of Pediatrics, Medical Faculty., Mull M; Department of Diagnostic and Interventional Neuroradiology, Medical Faculty., Braunschweig T; Institute of Pathology, Medical Faculty, and., Weis J; Institute of Neuropathology, Medical Faculty, RWTH University, Aachen, Germany., Sommer CJ; Institute of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Demuth S; Praxis für Humangenetik Erfurt, Erfurt, Germany., Haase C; HELIOS Klinikum Erfurt, Ambulanz für Angeborene Stoffwechselerkrankungen, Sozialpädiatrisches Zentrum, Erfurt, Germany., Stollbrink-Peschgens C; Department of Pediatrics, Medical Faculty., Debray FG; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium., Libioulle C; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium., Choukair D; Department of General Pediatrics, University Children's Hospital, Heidelberg University, Heidelberg, Germany., Oommen PT; Department of Pediatric Oncology, Hematology, and Clinical Immunology, University Children's Hospital, Medical Faculty and., Borkhardt A; Department of Pediatric Oncology, Hematology, and Clinical Immunology, University Children's Hospital, Medical Faculty and., Surowy H; Institute of Human Genetics, Medical Faculty, Heinrich-Heine University (HHU), Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine University (HHU), Düsseldorf, Germany., Wagner N; Department of Pediatrics, Medical Faculty., Meyer R; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Eggermann T; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Begemann M; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Van Schaftingen E; Laboratory of Physiological Chemistry, de Duve Institute and., Häusler M; Department of Pediatrics, Medical Faculty., Tenbrock K; Department of Pediatrics, Medical Faculty., van den Heuvel L; Department of Pediatrics, Translational Metabolic Laboratory at the Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Elbracht M; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Kurth I; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany., Kraft F; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2021 Jun 15; Vol. 131 (12).
Autor:
den Hollander B; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands., Rasing A; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Post MA; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Klein WM; Department of Radiology and Nuclear Medicine and Anatomy, Radboud University Medical Centre, Nijmegen, Netherlands., Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Brands MM; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands., de Boer L; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Engelke UFH; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., van Essen P; Radboudumc Technology Center Clinical Studies, Radboud University Medical Center, Nijmegen, Netherlands., Fuchs SA; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Jensson BO; Decode Genetics/Amgen, Inc., Reykjavik, Iceland., Kluijtmans LAJ; United for Metabolic Diseases, Amsterdam, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Lengyel A; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Peters G; Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Salvarinova R; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Stefansson K; Decode Genetics/Amgen, Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Thorarensen Ó; Department of Pediatrics, Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavík, Iceland., Ulmen U; Department of Pediatrics, Sana Klinikum Lichtenberg, Berlin, Germany., Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Willemsen MA; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Lefeber DJ; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., van Karnebeek CDM; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.
Publikováno v:
Frontiers in neurology [Front Neurol] 2021 Jun 07; Vol. 12, pp. 668640. Date of Electronic Publication: 2021 Jun 07 (Print Publication: 2021).
Autor:
Guilder L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Prada CE; Division of Human Genetics, Cincinnati, Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Saenz S; Division of Human Genetics, Cincinnati, Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Jain-Ghai S; Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, Alberta, Canada., Karp N; Metabolic Genetics, Western University, Department of Pediatrics, Children's Hospital-London Health Sciences Centre, London, Ontario, Canada., Mazariegos G; Hillman Center for Pediatric Transplantation, UPMC Children's Hospital of Pittsburgh, Division of Pediatric Transplantation, Department of Surgery, Pittsburgh, PA, USA., Ratko S; Metabolic Genetics, Western University, Department of Pediatrics, Children's Hospital-London Health Sciences Centre, London, Ontario, Canada., Salvarinova R; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, BC Children's Hospital, BC Children's Hospital Research Institute, Vancouver, Canada., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, Alberta, Canada.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Apr 28; Vol. 27, pp. 100763. Date of Electronic Publication: 2021 Apr 28 (Print Publication: 2021).