Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9 , 66".

Autor: Dijkstra AM; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Evers-van Vliet K; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Heiner-Fokkema MR; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Bodewes FAJA; Section of Pediatric Gastroenterology and Hepatology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Bos DK; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Zsiros J; Princess Máxima Center for Pediatric Oncology, 3584 CX Utrecht, The Netherlands., van Aerde KJ; Department of Pediatric Infectious Disease and Immunology, Amalia's Children Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Koop K; Section Metabolic Diseases, Department of Pediatrics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., van Spronsen FJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Lubout CMA; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Sep 24; Vol. 10 (4). Date of Electronic Publication: 2024 Sep 24.

High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.

Autor: Eskandari SK; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., Revenich EGM; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., Pot DJ; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., de Boer F; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., Bierings M; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., van Spronsen FJ; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., van Hasselt PM; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., Lindemans CA; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands., Lubout CMA; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands.

Publikováno v: The New England journal of medicine [N Engl J Med] 2024 Feb 15; Vol. 390 (7), pp. 623-629.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

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.

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Autor: Shelkowitz E; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Education 2 South, L28-4114, East 17Th Avenue, Aurora, CO, 80045, USA., Saneto RP; Division of Pediatric Neurology, Department of Neurology, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle Children's Hospital, Seattle, WA, 98105, USA., Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lubout CMA; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center, Groningen, Groningen, The Netherlands., Stence NV; Department of Radiology, University of Colorado, Aurora, CO, USA., Brown MS; Department of Radiology, University of Colorado, Aurora, CO, USA., Long P; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Education 2 South, L28-4114, East 17Th Avenue, Aurora, CO, 80045, USA., Walleigh D; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA., Nelson JA; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA., Perez FE; Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Shaw DWW; Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Michl EJ; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Education 2 South, L28-4114, East 17Th Avenue, Aurora, CO, 80045, USA. Johan.Vanhove@childrenscolorado.org.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 05; Vol. 17 (1), pp. 423. Date of Electronic Publication: 2022 Dec 05.

Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.

Autor: Haitjema S; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands., Lubout CMA; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands., Zijlstra JHM; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands., Wolffenbuttel BHR; Department of Endocrinology, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands., van Spronsen FJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.

Publikováno v: Nutrients [Nutrients] 2022 Sep 23; Vol. 14 (19). Date of Electronic Publication: 2022 Sep 23.