Results 81 to 90 of about 1,230 (157)

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background. [PDF]

Cells
Fiori E, Guzzo SM, Lo Iacono L, Orsini C, Cabib S, Andolina D, Rossi L, Nardecchia F, Leuzzi V, Pascucci T.   +9 more
europepmc   +1 more source

Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study. [PDF]

Orphanet J Rare Dis
Mikołuć B, Walkowiak D, Korycińska-Chaaban D, Kałużny Ł, Giżewska M, Starostecka E, Lange A, Walkowiak J.   +7 more
europepmc   +1 more source

Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.

JAMA Netw Open
Wang S, Zhao J, Gong L, Tang Y, Li L, Yang W, Gu L, Kong Y.   +7 more
europepmc   +1 more source

Unveiling the phenylalanine coaggregation mechanism for a deep understanding of phenylketonuria disease. [PDF]

Sci Rep
Barazorda-Ccahuana HL, Mas F, Madurga S.
europepmc   +1 more source

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design. [PDF]

Hum Genomics
Karaca M, Gedikbasi A, Selamioğlu A, Yesil A, Toksoy G, Gulec C, Balci MC, Güneş D, Yıldırım BT, Kına G, Karaman V, Aslanger AD, Karaman B, Demirkol M, Uyguner ZO, Gokcay GF.   +15 more
europepmc   +1 more source

Real-World Administration Practices of Sapropterin in Paediatric and Adults with Phenylketonuria: Results from a United Kingdom Cross-Sectional Survey. [PDF]

Nutrients
Tosi M, Evans S, Pinto A, Jackson R, Ashmore C, Daly A, Ford S, Buckley S, Skidmore AG, MacDonald A.   +9 more
europepmc   +1 more source

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study. [PDF]

Orphanet J Rare Dis
Bahtiri L, Jørgensen C, Ahring K, Rasmussen H, Hermansen JM, Fjellbirkeland OW, Lund AM, Ørngreen MC.   +7 more
europepmc   +1 more source

Use of a Slow-Release Phenylalanine-Free Microtablet Protein Substitute in Children and Adolescents with Phenylketonuria: An Observational Pilot Study. [PDF]

Nutrients
Tosi M, Daly A, Ashmore C, Yilmaz Nas O, Pinto A, Evans S, MacDonald A.   +6 more
europepmc   +1 more source

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria. [PDF]

J Inherit Metab Dis
Gondrand C, Reischl-Hajiabadi AT, Bonedeau E, Weiß N, Schneider G, Fahn M, Myers F, Städle PM, Jeltsch K, Hoffmann GF, Okun JG, Haas D, Garbade SF, Johnsson K, Opladen T.   +14 more
europepmc   +1 more source

Therapeutic effect of histone deacetylase 6 inhibitor for a mouse model of phenylketonuria. [PDF]

Sci Rep
Choi JE, Park S, Song H, Hwang IT, Jung SC, Kim HS.   +5 more
europepmc   +1 more source