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Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges Cover

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges

Journal of Mother and Child
Volume 29 (2025): Issue 1 (February 2025)
By: Ewa Głąb-Jabłońska,  Joanna Taybert,  Anna Wiśniewska,  Mariola Sasin-Rokita,  Mariusz Ołtarzewski and  Magdalena Chełchowska  
Open Access
|Dec 2025

Authors

Ewa Głąb-Jabłońska

ewa.glab@imid.med.pl

Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland

Joanna Taybert

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland

Anna Wiśniewska

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland

Mariola Sasin-Rokita

Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland

Mariusz Ołtarzewski

Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland

Magdalena Chełchowska

Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland
DOI: https://doi.org/10.34763/jmotherandchild.20252901.d-25-00025 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 227 - 233
Submitted on: Jul 18, 2025
Accepted on: Sep 29, 2025
Published on: Dec 4, 2025
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
MCAD deficiency,
newborn screening,
tandem mass spectrometry,
C8,
DBS,
MS/MS,
atypical acylcarnitine profile
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2025 Ewa Głąb-Jabłońska, Joanna Taybert, Anna Wiśniewska, Mariola Sasin-Rokita, Mariusz Ołtarzewski, Magdalena Chełchowska, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

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