2017 (v1)
Publication
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Uploaded on: March 3, 2024
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2023 (v1)Publication
Introduction Pyruvate dehydrogenase complex (PDH) deficiency (Online Mendelian Inheritance in Man # 312170) is a relatively common mitochondrial disorder, caused by mutations in the X-linked PDHA1 gene and presenting with a variable phenotypic spectrum, ranging from severe infantile encephalopathy to milder chronic neurological...
Uploaded on: February 14, 2024