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of 3
pro vyhledávání: '"Jack Said"'
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Autor:
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-51 (2024)
Abstract Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary
Externí odkaz:
https://doaj.org/article/2dc70781578846fc93ab92e719142d46
Autor:
Kaleigh Bulloch Whitehall, Sarah Rose, Gillian Clague, Kirsten Ahring, Deborah Bilder, Cary Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania Muntau, André Santos Pessoa, Júlio César Rocha, Fran Rohr, H. Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian Sibbring
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100042- (2023)
Externí odkaz:
https://doaj.org/article/541810f0cdc74adc8a8b071143824c56
Publikováno v:
Urology Practice. 8:1-7
Introduction:Low grade upper tract urothelial cancer is an uncommon urothelial tumor for which treatment involves multiple ureteroscopic interventions and potentially radical nephroureterec...