Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs. The screening parameter free carnitine, however, is influenced by m...

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Detalles Bibliográficos
Autores principales: Schiergens, Katharina A., Weiss, Katharina J., Röschinger, Wulf, Lotz-Havla, Amelie S., Schmitt, Joachim, Dalla Pozza, Robert, Ulrich, Sarah, Odenwald, Birgit, Kreuder, Joachim, Maier, Esther M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8214137/
https://www.ncbi.nlm.nih.gov/pubmed/34178604
http://dx.doi.org/10.1016/j.ymgmr.2021.100776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8214137/
https://www.ncbi.nlm.nih.gov/pubmed/34178604
http://dx.doi.org/10.1016/j.ymgmr.2021.100776

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