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?
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1573-2665 |
|---|---|
| DOI: | 10.1002/jimd.12193 |
