TPK1 Deficiency-A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern

Affiliations

Editorial

Barbara Plecko. Neuropediatrics. 2021 Apr.

. 2021 Apr;52(2):69-70.

doi: 10.1055/s-0041-1725949. Epub 2021 Feb 24.

¹ Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.

No abstract available

Conflict of interest statement

None declared

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.
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Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
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