Antti M. Puhakka
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View article: Peripartum heart failure in Finland: A population‐based record linkage study
Peripartum heart failure in Finland: A population‐based record linkage study Open
Aims Heart failure in late pregnancy and the postpartum period (HFPP) is a rare but potentially life‐threatening condition, with peripartum cardiomyopathy (PPCM) being the most common subtype. This study aims to comprehensively investigate…
View article: X‐linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus
X‐linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus Open
We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initiall…