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Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

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Title: Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Authors: Haijes HA; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Janssen MC; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Bosch AM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Mulder MF; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Wagenmakers MA; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brouwers MCGJ; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center, Maastricht, The Netherlands., de Vries MC; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Hasselt PM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 424-437. Date of Electronic Publication: 2019 Dec 22.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
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  Data: <searchLink fieldCode="AU" term="%22Haijes+HA%22">Haijes HA</searchLink>; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Molema+F%22">Molema F</searchLink>; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Langeveld+M%22">Langeveld M</searchLink>; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Janssen+MC%22">Janssen MC</searchLink>; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bosch+AM%22">Bosch AM</searchLink>; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Spronsen+F%22">van Spronsen F</searchLink>; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+MF%22">Mulder MF</searchLink>; Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Verhoeven-Duif+NM%22">Verhoeven-Duif NM</searchLink>; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jans+JJM%22">Jans JJM</searchLink>; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Ploeg+AT%22">van der Ploeg AT</searchLink>; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wagenmakers+MA%22">Wagenmakers MA</searchLink>; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rubio-Gozalbo+ME%22">Rubio-Gozalbo ME</searchLink>; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brouwers+MCGJ%22">Brouwers MCGJ</searchLink>; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+MC%22">de Vries MC</searchLink>; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Langendonk+JG%22">Langendonk JG</searchLink>; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Hasselt+PM%22">van Hasselt PM</searchLink>; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 424-437. <i>Date of Electronic Publication: </i>2019 Dec 22.
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