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Description

den Urin zu den primren Strungen und auch ein myopathischer Carnitin-Mangel, bei dem die Serumkonzentration von L-Carnitin zwar im Normalbereich liegt, die Konzentration in den Muskeln allerdings mangelhaft ist, ist typisch fr primre Strungen

F.LiuQ.et al (2024)

However, some people with TMAU as defined by the choline challenge test do not have any variants, either rare ones with total loss of function or common ones (associated with less extreme impairment) in this gene