Zobrazeno 1 - 10
of 1 389
pro vyhledávání: '"Janssen Mc"'
Autor:
Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands., Teela L; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam Reproduction and Development, Amsterdam Public Health, Amsterdam, the Netherlands., Janssen MC; Department of Internal Medicine, Radboud Centre for Mitochondrial and Metabolic Medicine, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands., Willemsen MAAP; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Neuteboom RF; Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands., Haverman L; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam Reproduction and Development, Amsterdam Public Health, Amsterdam, the Netherlands., Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Duke University, Durham, NC, USA., Coughlin CR; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Mar 04; Vol. 31, pp. 100853. Date of Electronic Publication: 2022 Mar 04 (Print Publication: 2022).
Autor:
Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Haijes HA; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands., Janssen MC; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Bosch AM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Spronsen FJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Mulder MF; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands., Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Wagenmakers MA; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, the Netherlands., Brouwers MCGJ; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center, Maastricht, the Netherlands., de Vries MC; Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands., Fuchs S; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Rizopoulos D; Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van Hasselt PM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands., Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands. Electronic address: m.williams@erasmusmc.nl.
Publikováno v:
Clinical nutrition (Edinburgh, Scotland) [Clin Nutr] 2021 May; Vol. 40 (5), pp. 3622-3630. Date of Electronic Publication: 2020 Dec 25.
Autor:
Helmy, Rasha1 (AUTHOR), Mahmoud, Rasha Selim1 (AUTHOR) rasha.selim91@cu.edu.eg, Elmonem, Mohamed A.2 (AUTHOR), Emadeldin, Sally3 (AUTHOR), Soliman, Neveen Abd Elmonem1 (AUTHOR)
Publikováno v:
Egyptian Pediatric Association Gazette. 9/27/2024, Vol. 72 Issue 1, p1-10. 10p.
Autor:
de Laat P; Radboudumc Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands., Rodenburg RR; Radboudumc Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands., Roeleveld N; Department for Health Evidence, Radboudumc, Nijmegen, Gelderland, The Netherlands., Koene S; Radboudumc Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands., Smeitink JA; Radboudumc Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands., Janssen MC; Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands mirian.janssen@radboudumc.nl.
Publikováno v:
Journal of medical genetics [J Med Genet] 2021 Jan; Vol. 58 (1), pp. 48-55. Date of Electronic Publication: 2020 May 21.
Autor:
Veys KRP; Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium., Elmonem MA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt., Van Dyck M; Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Janssen MC; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelissen EAM; Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands., Hohenfellner K; Department of Pediatrics, Children's Hospital of Rosenheim, Rosenheim, Germany., Prencipe G; Division of Rheumatology and Immuno-Rheumatology Research Laboratories, Bambino Gesù Children's Hospital, Rome, Italy., van den Heuvel LP; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands., Levtchenko E; Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium elena.levtchenko@uzleuven.be.; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.
Publikováno v:
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2020 May; Vol. 31 (5), pp. 1092-1106. Date of Electronic Publication: 2020 Apr 09.
Autor:
Haijes HA; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Janssen MC; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Bosch AM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Mulder MF; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Wagenmakers MA; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brouwers MCGJ; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center, Maastricht, The Netherlands., de Vries MC; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Hasselt PM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 424-437. Date of Electronic Publication: 2019 Dec 22.
Autor:
Stabouli S; 1st Department of Pediatrics, Aristotle University Thessaloniki, Hippokratio Hospital, 49 Konstantinoupoleos Str, 54642, Thessaloniki, Greece. sstaboul@auth.gr., Sommer A; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany., Kraft S; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany., Schweer K; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany., Bethe D; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany., Bertholet-Thomas A; Pediatric Nephrology, Rheumatology and Dermatology Unit, Reference Center for Rare Renal Diseases, Hospices Civils de Lyon & INSERM1033 Research Unit, Hospital Femme Mere Enfant, Lyon 1 University, Lyon, France., Batte S; Children's Renal & Urology Unit, Queens Medical Centre, Nottingham, UK., Ariceta G; Department of Pediatric Nephrology, Hospital Vall d´Hebron, University Autonomous of Barcelona, Barcelona, Spain., Brengmann S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Bacchetta J; Pediatric Nephrology, Rheumatology and Dermatology Unit, Reference Center for Rare Renal Diseases, Hospices Civils de Lyon & INSERM1033 Research Unit, Hospital Femme Mere Enfant, Lyon 1 University, Lyon, France., Emma F; Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy., Levtchenko E; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Ankara, Turkey., Willem L; Department of Child Nephrology and Organ Transplantation, Leuven University Hospital, Louvain, Belgium., Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Oh J; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany.
Publikováno v:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Oct; Vol. 39 (10), pp. 2861-2874. Date of Electronic Publication: 2024 Mar 22.
Autor:
McBride, Hannah1 (AUTHOR), Evans, Sharon2 (AUTHOR), Pinto, Alex2 (AUTHOR), Daly, Anne2 (AUTHOR), Ashmore, Catherine2 (AUTHOR), Ilgaz, Fatma3 (AUTHOR), Ford, Suzanne4,5 (AUTHOR), Buckley, Sharon6 (AUTHOR), MacDonald, Anita2 (AUTHOR) anita.macdonald@nhs.net
Publikováno v:
Orphanet Journal of Rare Diseases. 8/20/2024, Vol. 19 Issue 1, p1-13. 13p.
Autor:
Devitt, Lauren1 ldevitt@tcd.ie
Publikováno v:
Journal of Rare Diseases. 6/10/2024, Vol. 3 Issue 1, p1-12. 12p.
Autor:
Salah, Raida Ben1 raidabensalah@yahoo.fr, Derbel, Abir1, Megdich, Fatma2, Chabchoub, Imen1, Kallel, Choumous2, Bahloul, Zouhir1
Publikováno v:
Electronic Journal of General Medicine. Jun2024, Vol. 21 Issue 3, p1-6. 6p.