Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review
Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of T...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2023-08-01T00:00:00Z.
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