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Review
. 2019 Oct 14;139(15).
doi: 10.4045/tidsskr.18.0988. Print 2019 Oct 22.

[Pyruvate dehydrogenase deficiency]

[Article in Norwegian]
Sigrid Pedersen, Yngve Thomas Bliksrud, Kaja Kristine Selmer, Anette Ramm-Pettersen
Free article
Review

[Pyruvate dehydrogenase deficiency]

[Article in Norwegian]
Sigrid Pedersen et al. Tidsskr Nor Laegeforen. .
Free article

Abstract

Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cells. This particularly affects the central nervous system, resulting in a broad range of neurological symptoms.

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