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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8214137/
https://ncbi.nlm.nih.gov/pubmed/34178604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100776
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