Results 141 to 150 of about 18,914 (186)

Comment on Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. <i>Int. J. Mol. Sci</i>. 2024, <i>25</i>, 5065. [PDF]

Int J Mol Sci
Iqhrammullah M.
europepmc   +1 more source

Behavioral Phenotyping of the Pah^enu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives. [PDF]

J Inherit Metab Dis
Cao J, Kruizinga L, Hovens IB, van der Goot E, Havekes R, van der Zee EA.   +5 more
europepmc   +1 more source

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk. [PDF]

Genes (Basel)
Tummolo A, Tabaku O, Meneleo E, Pierri CL, De Grassi A, Di Tullio V, Paterno G, De Giovanni D.   +7 more
europepmc   +1 more source

Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms. [PDF]

Ann Afr Med
Sadaria R.
europepmc   +1 more source

Analysis of <i>PAH</i> Genetic Variation and Phenotypic Diversity in the PAHvdb. [PDF]

Int J Mol Sci
Amirgazin A, Mambetpayeva B, Akhmetova A, Kairzhanova A, Shevtsov A.   +4 more
europepmc   +1 more source

Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria. [PDF]

Mol Genet Metab Rep
McNutt M, Anderson KJ, Andrews A, Cooney E, Murray BM, Tharp M, Vucko E, Wessenberg L, Wilson K, Wong D, Hansen J, Rose S, Wardley B, Thomas JA.   +13 more
europepmc   +1 more source

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine. [PDF]

Cureus
Li OM, Li Y, Li SXT.
europepmc   +1 more source

Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase. [PDF]

Mol Genet Metab Rep
Cazzorla C, Gaiga G, Carretta J, Gragnaniello V, Loro C, Gueraldi D, Dorigato A, Burlina AP, Burlina AB.   +8 more
europepmc   +1 more source

Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye. [PDF]

BMC Health Serv Res
Yeşildal M, Erişen MA, Eşgi M.
europepmc   +1 more source