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?

HA Haijes; F Molema; M Langeveld; M Janssen; A Bosch; F van Spronsen; MF (Margot) Mulder; NM Verhoeven-Duif; JJM Jans; Ans van der Ploeg; Margreet Wagenmakers; ME Rubio-Gozalbo; M Brouwers; MC de Vries; Janneke Langendonk; Monique Williams; PM van Hasselt

doi:10.1002/jimd.12193

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?

HA Haijes, F Molema, M Langeveld, M Janssen, A Bosch, F van Spronsen, MF (Margot) Mulder, NM Verhoeven-Duif, JJM Jans, Ans van der Ploeg, Margreet Wagenmakers, ME Rubio-Gozalbo, M Brouwers, MC de Vries, Janneke Langendonk, Monique Williams, PM van Hasselt

Research output: Contribution to journal › Article › Academic › peer-review

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Original language	English
Pages (from-to)	424-437
Number of pages	14
Journal	Journal of Inherited Metabolic Disease
Volume	43
Issue number	3
DOIs	https://doi.org/10.1002/jimd.12193
Publication status	Published - 2020

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Haijes, HA., Molema, F., Langeveld, M., Janssen, M., Bosch, A., van Spronsen, F., Mulder, MF., Verhoeven-Duif, NM., Jans, JJM., van der Ploeg, A., Wagenmakers, M., Rubio-Gozalbo, ME., Brouwers, M., de Vries, MC., Langendonk, J., Williams, M., & van Hasselt, PM. (2020). 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? Journal of Inherited Metabolic Disease, 43(3), 424-437. https://doi.org/10.1002/jimd.12193

@article{ca15104cd3914aa99e704aa467bac360,

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?",

author = "HA Haijes and F Molema and M Langeveld and M Janssen and A Bosch and {van Spronsen}, F and Mulder, {MF (Margot)} and NM Verhoeven-Duif and JJM Jans and {van der Ploeg}, Ans and Margreet Wagenmakers and ME Rubio-Gozalbo and M Brouwers and {de Vries}, MC and Janneke Langendonk and Monique Williams and {van Hasselt}, PM",

year = "2020",

doi = "10.1002/jimd.12193",

language = "English",

volume = "43",

pages = "424--437",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "3",

}