Results 131 to 140 of about 18,914 (186)

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria. [PDF]

Mol Genet Metab Rep
Lubout CMA, van Wegberg AMJ, van Adrichem-van Dam E, Jansen ME, van Steenis EM, Heiner-Fokkema MR, van Spronsen FJ.   +6 more
europepmc   +1 more source

The Impact of Prescription Barriers to Special Low Protein Foods and Protein Substitutes on PKU Care: Findings from a National Survey of Metabolic Dietitians. [PDF]

Nutrients
Tosi M, Ford S, Grimsley A, Bailey S, MacDonald A.   +4 more
europepmc   +1 more source

Genetic landscape of phenylketonuria in Brazil. [PDF]

Orphanet J Rare Dis
Tresbach RH, de Abreu Neto JB, Sperb-Ludwig F, Vieira MW, Costa RD, Freitas PEB, da Silva LCS, de Camargo Pinto LL, Galera MF, Cunha KCCMS, de Souza CAA, Januário JN, Aguiar MJB, Heredia RS, da Silva Rosa MTA, Poubel MO, Maillot F, Schwartz IVD.   +17 more
europepmc   +1 more source

Nutritional Status and Physical Activity Levels in Adult Patients with Phenylketonuria. [PDF]

Nutrients
Kalkan D, Yıldız Y, Karanfil Y, Korkusuz F, Dursun A, Sivri S, Gökmen Özel H.   +6 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

Dietary conflicts with standard clinical procedures for colonoscopy in Phenylketonuria: a case report. [PDF]

J Med Case Rep
Tosi M, Daly A, Ashmore C, Pinto A, Evans S, Verduci E, Ford S, Hill M, Grimsley A, MacDonald A.   +9 more
europepmc   +1 more source

Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria? [PDF]

JIMD Rep
Vallesi V, Morishima Y, Winiger L, Trepp R, Everts R, Muri R.   +5 more
europepmc   +1 more source

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]

J Inherit Metab Dis
Longo N, Burton BK, Vaghela S, Mu F, Wang A, Smith J, Reichert E, Simpson RB, Sikirica V, Perera S.   +9 more
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