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Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0336
Abstract: Abstract Objectives Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phenylalanine hydroxylase (PAH) and frequently diagnosed with Sanger sequencing. To some extent, allelic dropout…
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Keywords:
dropout;
diagnosis;
pah affecting;
dropout pah ... See more keywords