Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial

Abstract Background Phenylketonuria (PKU) is an autosomal recessive genetic condition caused by a PAH gene mutation that results in impaired function of the phenylalanine hydroxylase (PAH) pathway. Thus, L-phenylalanine (Phe) cannot be effectively hydroxylated into L-tyrosine (Tyr), so without treat...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Sophia M. Khan, Madison L. Fennell, Mazyar Fallah, Heather Jordan, Zachary Kroezen, Philip Britz-McKibbin, Philip J. Millar, Robyn R. Heister, Marie-Claude Vohl, Justine R. Keathley
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2026-01-01
Цуврал:	Orphanet Journal of Rare Diseases
Нөхцлүүд:	Phenylketonuria PKU Genetics Rare disease Nutrition Phenylalanine
Онлайн хандалт:	https://doi.org/10.1186/s13023-025-04131-2
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!