Zobrazeno 1 - 10
of 854
pro vyhledávání: '"Rubio-Gozalbo ME"'
Autor:
Derks B; Department of Pediatrics, Maastricht University Medical Centre+, MosaKids Children's Hospital, Maastricht, The Netherlands.; Department Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member, Udine, Italy., Kumar VS; Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Maastricht Brain Imaging Centre (MBIC), Maastricht University, Maastricht, The Netherlands., Yadnik S; Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Maastricht Brain Imaging Centre (MBIC), Maastricht University, Maastricht, The Netherlands., Panis B; Department of Pediatrics, Maastricht University Medical Centre+, MosaKids Children's Hospital, Maastricht, The Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member, Udine, Italy., Bosch AM; Department of Paediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands., Cassiman D; Department of Gastroenterology-Hepatology and Adult Metabolic Center, University Hospital Leuven, Leuven, Belgium., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Schuhmann T; Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Maastricht Brain Imaging Centre (MBIC), Maastricht University, Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics, Maastricht University Medical Centre+, MosaKids Children's Hospital, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member, Udine, Italy., Jansma BM; Department of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Maastricht Brain Imaging Centre (MBIC), Maastricht University, Maastricht, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 703-715. Date of Electronic Publication: 2024 Apr 24.
Autor:
Panis B; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands., Vos EN; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands., Barić I; Department of Pediatrics, University Hospital Center Zagreb, Croatia, and School of Medicine, University of Zagreb, Zagreb, Croatia., Bosch AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Pediatrics, Division of Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, Netherlands., Brouwers MCGJ; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Centre, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, Netherlands., Burlina A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Padova, Italy., Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Faculty of Medicine, KU Leuven, Leuven, Belgium., Coman DJ; Queensland Children's Hospital, Children's Health Queensland, Brisbane, QLD, Australia., Couce ML; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Pediatrics, Diagnosis and Treatment Unit of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, CIBERER, RICORS Instituto Salud Carlos III, Santiago de Compostela, Spain., Das AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Pediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany., Demirbas D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States., Empain A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Metabolic and Nutrition Unit, Division of Endocrinology, Diabetes and Metabolism, University Hospital for Children Queen Fabiola, Bruxelles, Belgium., Gautschi M; Department of Paediatrics, Institute of Clinical Chemistry, Inselspital, Bern University Hospital, Swiss Reference Centre for Inborn Errors of Metabolism, Site Bern, Division of Pediatric Endocrinology, Diabetes and Metabolism, University of Bern, Bern, Switzerland., Grafakou O; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; IEM Clinic, Arch Makarios III Hospital, Nicosia, Cyprus., Grunewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, United Kingdom., Kingma SDK; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, University College Dublin, Dublin, Ireland., Leão-Teles E; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário São João, Porto, Portugal., Möslinger D; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (NHNN), London, United Kingdom., Õunap K; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Genetics and Personalized Medicine Clinic, Faculty of Medicine, Tartu University Hospital, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Pané A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Endocrinology and Nutrition Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Paci S; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Inborn Errors of Metabolism, Clinical Department of Pediatrics, San Paolo Hospital - ASST Santi Paolo e Carlo, University of Milan, Milan, Italy., Parini R; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Rare Diseases Unit, Department of Internal Medicine, San Gerardo Hospital IRCCS, Monza, Italy., Rivera IA; iMed.ULisboa-Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, Lisboa, Portugal., Scholl-Bürgi S; 29 Department of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University Innsbruck, Innsbruck, Austria., Schwartz IVD; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Sdogou T; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece., Shakerdi LA; Adult Metabolics/Genetics, National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland., Skouma A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece., Stepien KM; Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, United Kingdom., Treacy EP; School of Medicine, Trinity College Dublin, National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland., Waisbren S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States., Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States., Rubio-Gozalbo ME; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Feb 15; Vol. 15, pp. 1355962. Date of Electronic Publication: 2024 Feb 15 (Print Publication: 2024).
Autor:
Veldman A; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Kiewiet MBG; Department of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Brands MMG; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., de Coo RIFM; Department of Toxicogenomics, Unit Clinical Genomics, MHeNs School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, The Netherlands., Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Fuchs SA; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Kluijtmans LAJ; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Koop K; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Lubout CMA; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Mulder MF; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Panis B; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., de Sain-van der Velden MG; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Schaefers J; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Schreuder AB; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Visser G; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Wevers RA; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Wijburg FA; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2023 Oct 11; Vol. 9 (4). Date of Electronic Publication: 2023 Oct 11.
Autor:
Panis B; Division of Genetic Metabolic Diseases, Department of Pediatrics Maastricht University Medical Center Maastricht The Netherlands.; Member of European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Member of United for Metabolic Diseases (UMD)., Janssen LEF; Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine Maastricht University Medical Center Maastricht The Netherlands., Lefeber DJ; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Center Nijmegen The Netherlands.; Department of Neurology Radboud University Medical Center Nijmegen The Netherlands., Simons N; Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine Maastricht University Medical Center Maastricht The Netherlands.; Laboratory for Metabolism and Vascular Medicine, Division of General Internal Medicine, department of Internal Medicine Maastricht University Medical Center Maastricht The Netherlands.; CARIM, School for Cardiovascular Diseases Maastricht The Netherlands., Rubio-Gozalbo ME; Division of Genetic Metabolic Diseases, Department of Pediatrics Maastricht University Medical Center Maastricht The Netherlands.; Member of European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Member of United for Metabolic Diseases (UMD).; Department of Clinical Genetics Maastricht University Medical Center, Maastricht University Maastricht The Netherlands.; GROW-School for Oncology and Developmental Biology, Faculty of Health, Medicine and Life Sciences Maastricht University Maastricht The Netherlands., Brouwers MCGJ; Member of European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Member of United for Metabolic Diseases (UMD).; Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine Maastricht University Medical Center Maastricht The Netherlands.; Laboratory for Metabolism and Vascular Medicine, Division of General Internal Medicine, department of Internal Medicine Maastricht University Medical Center Maastricht The Netherlands.; CARIM, School for Cardiovascular Diseases Maastricht The Netherlands.
Publikováno v:
JIMD reports [JIMD Rep] 2023 Jul 27; Vol. 64 (5), pp. 353-359. Date of Electronic Publication: 2023 Jul 27 (Print Publication: 2023).
Autor:
Hermans ME; Emma Children's Hospital, Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., van Oers HA; Emma Children's Hospital, Child and Adolescent Psychiatry and Psychosocial Care, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Child Development, Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Mental Health and Quality of Care, Amsterdam Public Health, Amsterdam, The Netherlands., Geurtsen GJ; Department of Medical Psychology, Amsterdam Neuroscience Degeneration, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Haverman L; Emma Children's Hospital, Child and Adolescent Psychiatry and Psychosocial Care, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Child Development, Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Amsterdam Public Health, Mental Health and Digital Health, Amsterdam, The Netherlands., Hollak CEM; Division of Endocrinology and Metabolism, Department of Internal Medicine, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands., Bosch AM; Emma Children's Hospital, Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.m.bosch@amsterdamumc.nl.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. a.m.bosch@amsterdamumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 02; Vol. 18 (1), pp. 135. Date of Electronic Publication: 2023 Jun 02.
Autor:
Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. estela.rubio@mumc.nl., Derks B; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Das AM; Clinic for Paediatric Kidney-, Liver- and Metabolic Diseases, Hannover, Germany., Meyer U; Clinic for Paediatric Kidney-, Liver- and Metabolic Diseases, Hannover, Germany., Möslinger D; Department for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria., Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, University and Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, Santiago de Compostela, Spain., Empain A; Department of Pediatrics, Queen Fabiola Children's University Hospital, Metabolic Centre ULB-VUB, Brussels, Belgium., Ficicioglu C; Department of Metabolic Disease Program, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Juliá Palacios N; Metabolic Unit. Departments of Neurology and Gastroenterology-Nutrition. IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN. Hospital Sant Joan de Déu, Barcelona, Spain., De Los Santos De Pelegrin MM; Metabolic Unit. Departments of Neurology and Gastroenterology-Nutrition. IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN. Hospital Sant Joan de Déu, Barcelona, Spain., Rivera IA; Research Institute for Medicines (iMed.ULisboa), and Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal., Scholl-Bürgi S; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Bosch AM; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands., Cassiman D; Metabolic Center, Department of Gastroenterology-Hepatology, Leuven University Hospitals and KU Leuven, Leuven, Belgium., Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Gautschi M; Department of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland., Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Labrune P; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.; Université Paris Sud-Paris Saclay, and INSERM U, Paris, France., Skouma A; Institute of Child Health, Institouto Ygeias Paidiou (ICH), Thivon 1 & Papadiamantopoulou, Athens, Greece., Verloo P; Division of Child Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium., Wortmann SB; University Children's Hospital, Parcelsus Medical University (PMU), Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Treacy EP; National Centre for Inherited Metabolic Disorders-Adult Services, Mater Misericordiae University Hospital, Dublin, Ireland., Timson DJ; School of Pharmacy and Biomolecular Sciences, University of Brighton, Brighton, UK., Berry GT; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 202-210. Date of Electronic Publication: 2020 Aug 18.
Autor:
Derks B; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member., Rivera-Cruz G; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Hagen-Lillevik S; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Department of Nutrition and Integrative Physiology, University of Utah College of Health, Salt Lake City, UT, USA., Vos EN; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member., Demirbas D; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lai K; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Department of Nutrition and Integrative Physiology, University of Utah College of Health, Salt Lake City, UT, USA., Treacy EP; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member.; National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland.; School of Medicine, Trinity College, Dublin 2, Ireland.; School of Medicine, University College Dublin, Belfield, Dublin 4, Ireland., Levy HL; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Wilkins-Haug LE; Division of Maternal Fetal Medicine, Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member and United for Metabolic Diseases Member., Berry GT; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Publikováno v:
Human reproduction update [Hum Reprod Update] 2023 Mar 01; Vol. 29 (2), pp. 246-258.
Autor:
Ferreira EA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands., Veenvliet ARJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Hoegen B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer L; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Leenders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelissen EAM; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Schieving JH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Rubio-Gozalbo ME; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Pediatrics, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands; GROW-School for Oncology and Developmental Biology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands., Körver-Keularts IMLW; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Marten LM; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Diegmann S; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Mourmans J; Department of Pediatrics, Deventer Ziekenhuis, Deventer, The Netherlands., Rennings AJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Chemistry and Hematology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 125-134. Date of Electronic Publication: 2022 Nov 09.
Autor:
Katler QS; Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, USA., Stepien KM; Adult Inherited Metabolic Diseases Department, Salford Royal Foundation NHS Trust, Salford, UK., Paull N; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Patel S; Neuroscience and Behavioral Biology Program, Emory University, Atlanta, Georgia, USA., Adams M; Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA., Balci MC; Department of Pediatric Metabolic Disease, Istanbul Medical School, Istanbul, Turkey., Berry GT; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bosch AM; Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., DeLaO A; Wasatch Pediatrics, Salt Lake City, Utah, USA., Demirbas D; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Edman J; Department of Pediatric Genetics, University of Illinois-Chicago, Chicago, Illinois, USA., Ficicioglu C; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA., Goff M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Hacker S; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA., Knerr I; National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland., Lancaster K; Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA., Li H; Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA., Mendelsohn BA; Department of Genetics, Oakland Medical Center, Kaiser Permanente, Oakland, California, USA., Nichols B; Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, Arkansas, USA., de Rezende Pinto WBV; Division of Neuromuscular Diseases, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Rocha JC; Nutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.; Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal, Lisbon, Portugal., Rubio-Gozalbo ME; Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Reproduction, European Reference Network for Hereditary Metabolic Disorders (MetabERN) member and United for Metabolic Diseases Member, Maastricht University Medical Centre, Maastricht, The Netherlands., Saad-Naguib M; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA., Scholl-Buergi S; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Searcy S; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., de Souza PVS; Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Wittenauer A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Fridovich-Keil JL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1106-1117. Date of Electronic Publication: 2022 Sep 26.
Autor:
Derks B; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands., Demirbas D; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA., Arantes RR; Special Service of Medical Genetics, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Banford S; South Eastern Health and Social Care Trust, Downpatrick, BT30 6RL, UK., Burlina AB; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Division of Inherited Metabolic Diseases, University Hospital, Via Orus 2/B, 35128, Padua, Italy., Cabrera A; Nutrition Department, Hospital de Niños V.J. Vilela, Sante Fe, Rosario, Argentina., Chiesa A; Department of Endocrinology, Hospital de Niños Ricardo Gutièrrez, Buenos Aires, Argentina., Couce ML; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Metabolic Unit, IDIS, Department of Neonatology, University Clinical Hospital of Santiago de Compostela. Calle Choupana, s/n, 15706, Santiago de Compostela, Spain., Dionisi-Vici C; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Division of Metabolism, Bambino Gesu Children's Research Hospital IRCCS, Piazza S Onofrio 4, 00165, Roma, Italy., Gautschi M; Division of Paediatric Endocrinology and Metabolism, Department of Paediatrics, University Hospital Bern, Inselspital, Freiburgstrasse 15, CH-3010, Bern, Switzerland., Grünewald S; Metabolic Medicine Department, NIHR Biomedical Research Center (BRC), Institute for Child Health, Great Ormond Street Hospital, University College London, London, UK., Morava E; Department of Clinical Genomics and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Möslinger D; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria., Scholl-Bürgi S; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria., Skouma A; Institute of Child Health, Aghia Sophia Children's Hospital, Thivon & Papadiamantopoulou, 11527, Athens, Greece., Stepien KM; Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, Greater Manchester, UK., Timson DJ; School of Pharmacy and Biomolecular Sciences, University of Brighton, Huxley Building, Lewes Road, Brighton, BN2 4GJ, UK., Berry GT; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands. estela.rubio@mumc.nl.; GROW, Maastricht University, Maastricht, The Netherlands. estela.rubio@mumc.nl.; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy. estela.rubio@mumc.nl.; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands. estela.rubio@mumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 02; Vol. 17 (1), pp. 331. Date of Electronic Publication: 2022 Sep 02.