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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

Autor: Peters TMA; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., de Boer S; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Reintjes JTG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA., Broekman S; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., de Vrieze E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., van Wijk E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Wamelink MMC; Department of Clinical Chemistry, Metabolic Unit, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands., Artuch R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain., Barić I; Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Merx J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, The Netherlands., Boltje TJ; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, The Netherlands., Martens J; Institute for Molecules and Materials, FELIX Laboratory, Radboud University, Nijmegen, The Netherlands., Willemsen MAAP; Department of Pediatric Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Verbeek MM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Laboratory of Clinical Chemistry and Haematology, Máxima Medical Center, Veldhoven, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 417-430. Date of Electronic Publication: 2023 Jul 29.

Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).

Autor: Ferreira EA; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands., Buijs MJN; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Wijngaard R; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Daams JG; Medical Library (J.G.D.), Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Datema MR; Department of Endocrinology and Metabolism, Amsterdam UMC, Research Institute Gastroenterology, Endocrinology and Metabolism (AGEM), University of Amsterdam, Amsterdam, Netherlands., Engelen M; Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Karnebeek CDM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Oud MM; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Vaz FM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Gastroenterology, Endocrinology & Metabolism (AGEM), University of Amsterdam, Amsterdam University Medical Center, Amsterdam, Netherlands., Wamelink MMC; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Gastroenterology, Endocrinology & Metabolism (AGEM), University of Amsterdam, Amsterdam University Medical Center, Amsterdam, Netherlands., van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, Research Institute Gastroenterology, Endocrinology and Metabolism (AGEM), University of Amsterdam, Amsterdam, Netherlands.

Publikováno v: Frontiers in neurology [Front Neurol] 2023 Jul 25; Vol. 14, pp. 1206106. Date of Electronic Publication: 2023 Jul 25 (Print Publication: 2023).

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.

Autor: van de Kamp JM; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Bökenkamp A; Emma Children's Hospital, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Smith DEC; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wamelink MMC; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Jansen EEW; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Struys EA; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Verkleij M; Department of Pediatric Psychology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Hartmann MF; Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Wang R; Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Wudy SA; Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Paganini C; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy., Rossi A; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy., Finken MJJ; Emma Children's Hospital, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Publikováno v: Clinical genetics [Clin Genet] 2023 Jan; Vol. 103 (1), pp. 45-52. Date of Electronic Publication: 2022 Oct 03.

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

Autor: Hermans ME; Department of Pediatrics, 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., van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Vaz FM; Department of Pediatrics, 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.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, The Netherlands., Ferdinandusse S; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Pras-Raves ML; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Epidemiology and Data Science, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Wamelink MMC; Department of Clinical Chemistry, Metabolic Unit, Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wanders RJA; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Welsink-Karssies MM; Department of Pediatrics, 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., Bosch AM; Department of Pediatrics, 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.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1094-1105. Date of Electronic Publication: 2022 Aug 25.