Measurement of reverse T3 level and the T3 to reverse T3 ratio in dried blood spot samples at birth may facilitate early detection of monocarboxylate transporter 8 deficiency.
2021
Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The dia...
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