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

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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Bibliographic Details
Main Authors: Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Carnitine transporter defect
Systemic primary carnitine deficiency
Newborn screening
Asymptomatic mothers
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000707

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http://www.sciencedirect.com/science/article/pii/S2214426921000707

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