Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jans JJ"'
Autor:
Ciapaite J; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; United for Metabolic Diseases, The Netherlands. Electronic address: j.ciapaite@umcutrecht.nl., van Roermund CWT; United for Metabolic Diseases, The Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands., Bosma M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; United for Metabolic Diseases, The Netherlands., Gerrits J; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; United for Metabolic Diseases, The Netherlands., Houten SM; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA., IJlst L; United for Metabolic Diseases, The Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands., Waterham HR; United for Metabolic Diseases, The Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands., van Karnebeek CDM; United for Metabolic Diseases, The Netherlands; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Wanders RJA; United for Metabolic Diseases, The Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands., Zwartkruis FJT; Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, The Netherlands., Jans JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; United for Metabolic Diseases, The Netherlands., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; United for Metabolic Diseases, The Netherlands.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2023 Sep; Vol. 299 (9), pp. 105047. Date of Electronic Publication: 2023 Jul 13.
Autor:
Amadeo-Oreggioni GP; Retina Department, Asociación Para Evitar Le Ceguera En México IAP, México City, Mexico., Ortiz-Ramirez GY; Retina Department, Asociación Para Evitar Le Ceguera En México IAP, México City, Mexico., Baquero-Ospina P; Retina Department, Asociación Para Evitar Le Ceguera En México IAP, México City, Mexico., Salcedo-Villanueva G; Retina Department, Asociación Para Evitar Le Ceguera En México IAP, México City, Mexico., Fromow-Guerra JJ; Retina Department, Asociación Para Evitar Le Ceguera En México IAP, México City, Mexico., Velez-Montoya R; Retina Department, Asociación Para Evitar Le Ceguera En México IAP, México City, Mexico.
Publikováno v:
Ocular immunology and inflammation [Ocul Immunol Inflamm] 2022 Oct-Nov; Vol. 30 (7-8), pp. 1768-1774. Date of Electronic Publication: 2021 Jul 20.
Autor:
Van Dooijeweert B; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatric Hematology, University Medical Center Utrecht, Utrecht. b.vandooijeweert-3@umcutrecht.nl., Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht., Van Beers EJ; Van Creveldkliniek, University Medical Center Utrecht, Utrecht., Nieuwenhuis EES; Department of Pediatric Hematology, University Medical Center Utrecht, Utrecht., Van Solinge WW; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht., Bartels M; Department of Pediatric Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.; Van Creveldkliniek, University Medical Center Utrecht, Utrecht., Jans JJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht., Van Wijk R; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht.
Publikováno v:
Haematologica [Haematologica] 2021 Oct 01; Vol. 106 (10), pp. 2720-2725. Date of Electronic Publication: 2021 Oct 01.
Autor:
Green-Gomez M; Nutrition Research Centre Ireland, School of Health Science, Waterford Institute of Technology, Waterford, Ireland., Moran R; Nutrition Research Centre Ireland, School of Health Science, Waterford Institute of Technology, Waterford, Ireland., Stringham J; Nutrition Research Centre Ireland, School of Health Science, Waterford Institute of Technology, Waterford, Ireland., Hernández-Alcaraz C; Centro de Investigación en Nutrición y Salud, Instituto Nacional de Salud Pública, Cuernavaca, México., Mendoza-Herrera K; Centro de Investigación en Nutrición y Salud, Instituto Nacional de Salud Pública, Cuernavaca, México., Fromow-Guerra JJ; Retina Division, Asociación Para Evitar la Ceguera en México I.A.P., México City, México., Prado-Cabrero A; Nutrition Research Centre Ireland, School of Health Science, Waterford Institute of Technology, Waterford, Ireland., Nolan J; Nutrition Research Centre Ireland, School of Health Science, Waterford Institute of Technology, Waterford, Ireland.
Publikováno v:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2021 Jul 01; Vol. 62 (9), pp. 18.
Autor:
van Dooijeweert B; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Beers EJ; Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Solinge WW; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Nieuwenhuis EES; Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Jans JJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Wijk R; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bartels M; Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands.
Publikováno v:
British journal of haematology [Br J Haematol] 2021 Jun; Vol. 193 (6), pp. 1185-1193. Date of Electronic Publication: 2021 May 17.
Autor:
Ghosh SG; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Lee S; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Fabunan R; Biology Department, San Diego State University, San Diego, CA, USA., Chai G; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Salam G; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan., Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan., McEvoy-Venneri J; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Stanley V; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Patel A; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Ross D; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Ding J; Departments of Medicine and Pharmacology, University of California-San Diego, La Jolla, CA, USA., Jain M; Departments of Medicine and Pharmacology, University of California-San Diego, La Jolla, CA, USA., Pan D; Centre for Integrative Signalling Analysis (CISA), University of Freiburg, Freiburg, Germany., Lübbert P; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kammerer B; Centre for Integrative Signalling Analysis (CISA), University of Freiburg, Freiburg, Germany., Wiedemann N; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; CIBSS Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Jans JJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Murphy D; Department of Clinical and Movement Neurosciences, UCL Institute of Neurology, Queen Square, London, UK., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Ibrahim K; Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar., Waters ER; Biology Department, San Diego State University, San Diego, CA, USA., Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University, London, UK.; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK., Gleeson JG; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA. jogleeson@health.ucsd.edu.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. jogleeson@health.ucsd.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 524-533. Date of Electronic Publication: 2020 Nov 14.
Autor:
Ciapaite J; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands. Electronic address: j.ciapaite@umcutrecht.nl., Albersen M; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Bosma M; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 CT Utrecht, the Netherlands., Gerrits J; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Lansu N; Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 CT Utrecht, the Netherlands., Zwakenberg S; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Bakkers JPW; Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 CT Utrecht, the Netherlands; Department of Medical Physiology, University Medical Center Utrecht, 3584 CM Utrecht, the Netherlands., Zwartkruis FJT; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., van Haaften G; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Jans JJ; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2020 Mar 01; Vol. 1866 (3), pp. 165607. Date of Electronic Publication: 2019 Nov 21.
Autor:
Rumping L; University Medical Center Utrecht, Utrecht, the Netherlands p.vanhasselt@umcutrecht.nl., Jans JJ; University Medical Center Utrecht, Utrecht, the Netherlands p.vanhasselt@umcutrecht.nl., van Hasselt PM; University Medical Center Utrecht, Utrecht, the Netherlands p.vanhasselt@umcutrecht.nl.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2019 Sep 19; Vol. 381 (12), pp. 1185.
Autor:
van Karnebeek CDM; Departments of Pediatrics & Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam Gastro-enterology and Metabolism, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands; Department of Pediatrics / Medical Genetics, BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl., Ramos RJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Wen XY; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada; Department of Medicine, Physiology and LMP & Institute of Medical Science, University of Toronto, Toronto, ON M5G 2C4, Canada., Tarailo-Graovac M; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada., Gleeson JG; Department Neurosciences and Pediatric, Howard Hughes Medical Institute, University of California; Rady Children's Institute for Genomic Medicine, San Diego, CA 92093, USA., Skrypnyk C; Department of Molecular Medicine and Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, Postal Code 328, Bahrain., Brand-Arzamendi K; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Karbassi F; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., van der Lee R; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada., Drögemöller BI; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada., Koster J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada., Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada., Wang Y; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Cao F; Department of Neuroscience & Mental Health, The Hospital for Sick Children & Department of Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada., Li M; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada., Ruiter J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Ciapaite J; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Kluijtmans LAJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Willemsen MAAP; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Jans JJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Ross CJ; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada., Wintjes LT; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Rodenburg RJ; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Huigen MCDG; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Jia Z; Department of Neuroscience & Mental Health, The Hospital for Sick Children & Department of Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada., Waterham HR; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Wasserman WW; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada., Wanders RJA; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands., Verhoeven-Duif NM; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Wevers RA; On behalf of 'United for Metabolic Diseases,' 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 534-548. Date of Electronic Publication: 2019 Aug 15.
Autor:
Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584, CT, The Netherlands., Duran KJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Alfen JC; Bartiméus, Institute for the Visually Impaired, Doorn, 3940, AB, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van der Crabben SN; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., Gerrits J; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Roosmalen MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Aalderen M; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Koot BG; Department of Pediatric Gastroenterology and Nutrition, Academic Medical Center, Amsterdam, 1105, AZ, The Netherlands., Oostendorp M; Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Laboratory of Clinical Chemistry, Deventer Hospital, Deventer, 7416, SE, The Netherlands., Duran M; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, 1105, AZ, The Netherlands., Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., de Koning TJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, 9713, GZ, The Netherlands., Calì F; Oasi Research Institute-IRCCS, Troina, 94018, Italy., Bosco P; Oasi Research Institute-IRCCS, Troina, 94018, Italy., Geleijns K; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., de Sain-van der Velden MGM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Knoers NV; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584, CT, The Netherlands.; Department of Medical Physiology, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands. G.vanHaaften@umcutrecht.nl.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands. G.vanHaaften@umcutrecht.nl., Jans JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.
Publikováno v:
Nature communications [Nat Commun] 2019 Apr 01; Vol. 10 (1), pp. 1477. Date of Electronic Publication: 2019 Apr 01.