A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency
The solute carrier family 16 member 1 (SLC16A1) gene encodes for monocarboxylate transporter 1 (MCT1) that mediates the movement of monocarboxylates, such as lactate and pyruvate across cell membranes. Inactivating recessive homozygous or heterozygous mutations in the SLC16A1 gene were described in...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2019-07-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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