Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
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Title
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
Authors
Keywords
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Journal
Orphanet Journal of Rare Diseases
Volume 15, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-10-22
DOI
10.1186/s13023-020-01586-3
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