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?
Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch PA and MMA patients, diagnosed between January 1979 and July 2019, was evaluated. Five clinical outcome parameters were defined: adverse outcome of the first symptomatic phase, frequency of acute metabolic decompensations (AMD), cognitive function, mitochondrial complicatio... Mehr ...
Verfasser: |
Haijes, H.A.
Molema, F.
Langeveld, M.
Janssen, M.C.
Bosch, A.M.
van Spronsen, F.
Mulder, M.F.
Verhoeven-Duif, N.M.
Jans, J.J.M.
van der Ploeg, A.T.
Wagenmakers, M.A.
Rubio-Gozalbo, M.E.
Brouwers, M.C.G.J.
de Vries, M.C.
Langendonk, J.G.
Williams, M.
van Hasselt, P.M. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2020 |
Reihe/Periodikum: |
Haijes , H A , Molema , F , Langeveld , M , Janssen , M C , Bosch , A M , van Spronsen , F , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Langendonk , J G , Williams , M & van Hasselt , P M 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 , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193 |
Schlagwörter: |
age
/ methylmalonic acidemia
/ mma
/ nbs
/ newborn screening
/ onset
/ organic acidurias
/ pa
/ phenotypic spectrum
/ propionic acidemia |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-27051470 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://cris.maastrichtuniversity.nl/en/publications/0db38af0-4801-4bb7-a52d-faf8b50d79c4 |