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?
Abstract 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 co... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2019 |
Reihe/Periodikum: | Journal of Inherited Metabolic Disease ; volume 43, issue 3, page 424-437 ; ISSN 0141-8955 1573-2665 |
Verlag/Hrsg.: |
Wiley
|
Schlagwörter: | Genetics (clinical) / Genetics |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26690353 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1002/jimd.12193 |