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106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations
106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations
2021
Katarina Šikić
Danijela Petković Ramadža
Tamara Žigman
Nina Barišić
Ivan Lehman
Johannes A. Mayr
Holger Prokisch
Saskia B. Wortmann
Wolfgang Sperl
Nikola Mesarić
Valentina Rahelić
Ksenija Fumić
David Ozretić
Maja Tomasović
Ivo Barić
Keywords:
Medicine
Pyruvate dehydrogenase deficiency
clinical phenotype
PDHA1 gene
diversity
Genetics
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