CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

Autor: van Karnebeek CDM; Amsterdam UMC location University of Amsterdam, Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam, The Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; United for Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Tarailo-Graovac M; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute (ACHRI), Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Leen R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Meinsma R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Correard S; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Jansen-Meijer J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Prykhozhij SV; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Pena IA; The Picower Institute for Learning and Memory, Massachusetts Institute of Technology-MIT, Boston, MA., Ban K; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Schock S; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Saxena V; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Pras-Raves ML; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Drögemöller BI; Rady Faculty of Health Sciences, Department of Biochemistry and Medical Genetics, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada., Grootemaat AE; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands., van der Wel NN; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands., Dobritzsch D; Uppsala University, Department of Chemistry, Biomedical Center, Uppsala, Sweden., Roseboom W; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands., Schomakers BV; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Jaspers YRJ; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Zoetekouw L; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Roelofsen J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., van der Lee R; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Ross CJ; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Kochan J; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biochemistry, Kraków, Poland., McIntyre RL; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., van Klinken JB; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Kramer G; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands., Weschke B; Department of Neuropediatrics, Charité University Medicine Berlin, Berlin, Germany., Labrune P; APHP-Université Paris-Saclay, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, Clamart, and Paris-Saclay University, and INSERM U 1195, Clamart, France., Willemsen MA; Department of Pediatric Neurology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Riva D; Neurogenetic Syndromes and Autism Spectrum Disorders Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Moeschler JB; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH., Filiano JJ; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH., Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Berman JN; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Dyment D; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Vaz FM; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Wasserman WW; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. Electronic address: a.b.vankuilenburg@amsterdamumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101104. Date of Electronic Publication: 2024 Feb 24.

Determination of Adenosine Deaminase Activity in Dried Blood Spots by a Nonradiochemical Assay Using Reversed-Phase High-Performance Liquid Chromatography.

Autor: van Kuilenburg, A.B. P.¹ (AUTHOR) a.b.vankuilenburg@amc.uva.nl, Zoetekouw, L.¹ (AUTHOR), Meijer, J.¹ (AUTHOR), Kuijpers, T.W.² (AUTHOR)

Publikováno v: Nucleosides, Nucleotides & Nucleic Acids. Apr-Jun2010, Vol. 29 Issue 4-6, p461-465. 5p. 4 Graphs.

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency.

Autor: Chohayeb, Engy A.¹ (AUTHOR) engychohayeb@gmail.com, Lotfy, Sohilla¹ (AUTHOR), El Hawary, Rabab E.² (AUTHOR), Meshaal, Safa S.² (AUTHOR), Mansour, Iman A.² (AUTHOR), Galal, Nermeen M.¹ (AUTHOR), Elmarsafy, Aisha M.¹ (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 9/20/2024, Vol. 25 Issue 1, p1-11. 11p.

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD.

Autor: van Kuilenburg, A.B. P., Meijer, J., Gökcay, G., Baykal, T., Rubio-Gozalbo, M.E., Mul, A.N. P. M., de Die-Smulders, C.E. M., Weber, P., Mori, A.Capone, Bierau, J., Fowler, B., Macke, K., Sass, J.O., Meinsma, R., Hennermann, J.B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., Nicolai, J.

Publikováno v: Nucleosides, Nucleotides & Nucleic Acids; Apr-Jun2010, Vol. 29 Issue 4-6, p509-514, 6p, 2 Diagrams

Novel Genetic Variants Explaining Severe Adverse Drug Events after Clinical Implementation of DPYD Genotype-Guided Therapy with Fluoropyrimidines: An Observational Study.

Autor: Díaz-Villamarín, Xando¹ (AUTHOR) xandodv@gmail.com, Martínez-Pérez, María² (AUTHOR), Nieto-Sánchez, María Teresa² (AUTHOR), Ruiz-Tueros, Gabriela¹ (AUTHOR), Fernández-Varón, Emilio^1,3 (AUTHOR), Torres-García, Alicia¹ (AUTHOR), González Astorga, Beatriz^1,4 (AUTHOR), Blancas, Isabel^1,4 (AUTHOR), Iáñez, Antonio J.⁵ (AUTHOR), Cabeza-Barrera, José^1,2 (AUTHOR), Morón, Rocío^1,2 (AUTHOR)

Publikováno v: Pharmaceutics. Jul2024, Vol. 16 Issue 7, p956. 18p.