Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Goorden SMI"'
Autor:
van der Veen SJ; Department of Endocrinology and Metabolism , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Sayed ME; Department of Endocrinology and Metabolism , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Hollak CEM; Department of Endocrinology and Metabolism , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Brands MM; Division of Metabolic Diseases , Department of Pediatrics , Emma Children's Hospital , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Snelder CKS; Department of Endocrinology and Metabolism , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Boekholdt SM; Department of Cardiology , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Vogt L; Department of Nephrology , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Goorden SMI; Amsterdam Gastroenterology, Endocrinology and Metabolism , Amsterdam , The Netherlands.; Laboratory Genetic Metabolic Diseases , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., van Kuilenburg ABP; Amsterdam Gastroenterology, Endocrinology and Metabolism , Amsterdam , The Netherlands.; Laboratory Genetic Metabolic Diseases , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands., Langeveld M; Department of Endocrinology and Metabolism , Amsterdam UMC location University of Amsterdam, Amsterdam , The Netherlands.
Publikováno v:
Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2023 Oct 01; Vol. 18 (10), pp. 1272-1282. Date of Electronic Publication: 2023 Jul 27.
Autor:
van Kuilenburg ABP; Amsterdam UMC location University of Amsterdam, Laboratory Genetic Metabolic Diseases F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.b.vankuilenburg@amsterdamumc.nl.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. a.b.vankuilenburg@amsterdamumc.nl., Hollak CEM; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Amsterdam UMC location University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Medicine for Society, Platform at Amsterdam, UMC-University of Amsterdam, Amsterdam, The Netherlands., Travella A; Biosidus S.A., Buenos Aires, Argentina., Jacobs M; Biosidus S.A., Buenos Aires, Argentina., Gentilini LD; Biosidus S.A., Buenos Aires, Argentina., Leen R; Amsterdam UMC location University of Amsterdam, Laboratory Genetic Metabolic Diseases F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., der Vlugt KMMG; Amsterdam UMC location University of Amsterdam, Laboratory Genetic Metabolic Diseases F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Stet FSB; Amsterdam UMC location University of Amsterdam, Laboratory Genetic Metabolic Diseases F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Goorden SMI; Amsterdam UMC location University of Amsterdam, Laboratory Genetic Metabolic Diseases F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., van der Veen S; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Amsterdam UMC location University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Medicine for Society, Platform at Amsterdam, UMC-University of Amsterdam, Amsterdam, The Netherlands., Criscuolo M; Biosidus S.A., Buenos Aires, Argentina., Papouchado M; Biosidus S.A., Buenos Aires, Argentina.
Publikováno v:
Drugs in R&D [Drugs R D] 2023 Jun; Vol. 23 (2), pp. 141-153. Date of Electronic Publication: 2023 Apr 21.
Autor:
Rinnov MR; Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark., Halling AS; Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark.; Department of Dermatology and Venereology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Gerner T; Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark., Ravn NH; Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark., Knudgaard MH; Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark., Trautner S; Department of Neonatology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Goorden SMI; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Ghauharali-van der Vlugt KJM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Stet FS; Department of Dermatology and Venereology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Skov L; Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark., Thomsen SF; Department of Dermatology and Venereology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Egeberg A; Department of Dermatology and Venereology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Rosted ALL; Niels Bohr Institute, University of Copenhagen, Copenhagen, Denmark., Petersen T; Niels Bohr Institute, University of Copenhagen, Copenhagen, Denmark., Jakasa I; Laboratory for Analytical Chemistry, Department of Chemistry and Biochemistry, Faculty of Food Technology and Biotechnology, University of Zagreb, Zagreb, Croatia., Riethmüller C; Serend-ip GmbH, Centre for Nanotechnology, Munster, Germany., Kezic S; Amsterdam Public Health research institute, Department of Public and Occupational Health Amsterdam UMC, Department of Public and Occupational Health, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands., Thyssen JP; Department of Dermatology and Venereology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Allergy [Allergy] 2023 Mar; Vol. 78 (3), pp. 791-802. Date of Electronic Publication: 2022 Sep 30.
Autor:
Albersen M; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., van der Beek SL; Reference Laboratory for Neonatal Screening, Center for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Dijkstra IME; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam Reproduction & Development, Amsterdam, The Netherlands., Barendsen RW; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Bliek J; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam Reproduction & Development, Amsterdam, The Netherlands., Boelen A; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Ebberink MS; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Goorden SMI; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Heijboer AC; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Jansen M; Department for Vaccine Supply and Prevention Programs, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Jaspers YRJ; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Metgod I; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Salomons GS; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Pediatric Neurology, Amsterdam UMC location University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam, The Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Verschoof-Puite RK; Department for Vaccine Supply and Prevention Programs, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Visser WF; Reference Laboratory for Neonatal Screening, Center for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Dekkers E; Center for Population Screening, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Engelen M; Department of Pediatric Neurology, Amsterdam UMC location University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam, The Netherlands., Kemp S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jan; Vol. 46 (1), pp. 116-128. Date of Electronic Publication: 2022 Oct 26.
Autor:
Kezic S; Amsterdam UMC, University of Amsterdam, Department of Public and Occupational Health, Amsterdam Public Health Research Institute, Amsterdam, the Netherlands., McAleer MA; Clinical Medicine, Trinity College Dublin, Dublin, Ireland.; Paediatric Dermatology, Children's Health Ireland at Crumlin, Dublin, 12, Ireland., Jakasa I; Laboratory for Analytical Chemistry, Department of Chemistry and Biochemistry, Faculty of Food Technology and Biotechnology, University of Zagreb, Zagreb, Croatia., Goorden SMI; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., der Vlugt KG; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., Beers-Stet FS; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., Meijer J; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., Roelofsen J; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., Nieman MM; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., van Kuilenburg ABP; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam, the Netherlands., Irvine AD; Clinical Medicine, Trinity College Dublin, Dublin, Ireland.; Paediatric Dermatology, Children's Health Ireland at Crumlin, Dublin, 12, Ireland.
Publikováno v:
The British journal of dermatology [Br J Dermatol] 2022 Jun; Vol. 186 (6), pp. 988-996. Date of Electronic Publication: 2022 Apr 05.
Autor:
Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Lenthe H; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Vervaart MAT; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Stet FS; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Klinkspoor JH; Central Diagnostic Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Vernon HJ; Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Goorden SMI; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Kulik W; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jan; Vol. 45 (1), pp. 29-37. Date of Electronic Publication: 2021 Aug 24.
Autor:
Wasim M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan., Khan HN; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan., Ayesha H; Department of Pediatrics, Allied & DHQ Hospitals, Faisalabad Medical University (FMU/PMC), Faisalabad, Pakistan., Iqbal M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan., Tawab A; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan., Irfan M; Department of Pediatrics, Allied & DHQ Hospitals, Faisalabad Medical University (FMU/PMC), Faisalabad, Pakistan., Kanhai W; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Goorden SMI; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Stroomer L; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Salomons G; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Vaz FM; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands.; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Karnebeek CDMV; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Awan FR; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan.
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Dec 14; Vol. 35 (3), pp. 325-332. Date of Electronic Publication: 2021 Dec 14 (Print Publication: 2022).
Autor:
Paisiou A; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Rogalidou M; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Pons R; Pediatric Neurology Unit, 1st Department of Pediatrics, , Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Ioannidou E; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Dimakou K; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Papadopoulou A; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, the Netherlands., Vessalas G; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Goorden SMI; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Roelofsen J; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Zoetekouw A; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Nieman MM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Dimitriou E; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Peristeri I; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Dec 03; Vol. 30, pp. 100829. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).
Autor:
Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands., Timmer C; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Goorden SMI; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Ten Hoedt AE; Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands., Janssen MCH; Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands., Rennings AJM; Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands., Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics UMC Utrecht Utrecht The Netherlands., Wamelink MMC; Metabolic Laboratory, Department of Clinical Chemistry Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands., Ruijter GJG; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands., Körver-Keularts IMLW; Laboratory of Biochemical Genetics, Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands., Heiner-Fokkema MR; Laboratory of Metabolic Diseases University of Groningen, University Medical Center Groningen Groningen The Netherlands., van Spronsen FJ; Division of Metabolic Diseases Beatrix Children's Hospital, University Medical Centre Groningen Groningen The Netherlands., Hollak CE; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Bosch AM; Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Huigen MCDG; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands.
Publikováno v:
JIMD reports [JIMD Rep] 2020 Nov 22; Vol. 58 (1), pp. 70-79. Date of Electronic Publication: 2020 Nov 22 (Print Publication: 2021).
Autor:
Jaspers YRJ; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Ferdinandusse S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Dijkstra IME; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Barendsen RW; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., van Lenthe H; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Kulik W; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Engelen M; Department of Pediatric Neurology, Amsterdam UMC, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands., Goorden SMI; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Vaz FM; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Kemp S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands.; Department of Pediatric Neurology, Amsterdam UMC, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.
Publikováno v:
Frontiers in cell and developmental biology [Front Cell Dev Biol] 2020 Jul 29; Vol. 8, pp. 690. Date of Electronic Publication: 2020 Jul 29 (Print Publication: 2020).