A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological parameters of patients with MCAD deficiency born between 2007 and 2015. Severe MCAD deficiency was defined by ACADM genotypes associated with clinical ascertainment, or variant ACADM genotypes with a residual MCAD enzyme activity ACADM genotypes with a residual MCAD enzyme activity >= 10%. The prevalence of MCAD deficiency was 1/8300 (95% CI: 1/7300-1/9600). Sensitivity of... Mehr ...
Verfasser: |
Jager, Emmalie A.
Kuijpers, Myrthe M.
Bosch, Annet M.
Mulder, Margot F.
Gozalbo, Estela R.
Visser, Gepke
de Vries, Maaike
Williams, Monique
Waterham, Hans R.
van Spronsen, Francjan J.
Schielen, Peter C. J. I.
Derks, Terry G. J. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2019 |
Reihe/Periodikum: |
Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Gozalbo , E R , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102 |
Schlagwörter: |
acylcarnitine
/ inborn errors of metabolism
/ medium-chain acyl-CoA dehydrogenase deficiency
/ neonatal screening
/ prevalence
/ INBORN-ERRORS
/ BLOOD SPOTS
/ DIAGNOSIS
/ OCTANOYLCARNITINE
/ PERFORMANCE
/ METABOLISM
/ DISORDERS
/ CHILDREN
/ COENZYME |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-27596342 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://cris.maastrichtuniversity.nl/en/publications/032f65d2-f9b6-426d-92e3-5c1e6ddb3fd4 |