Results 81 to 90 of about 1,229 (164)

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 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

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

Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients. [PDF]

Eur J Neurol
Burlina AP, Manara R, Carretta J, Cazzorla C, Loro C, Gragnaniello V, Burlina AB.   +6 more
europepmc   +1 more source

The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria. [PDF]

Int J Stem Cells
Yu I, Park H, Lee J, Jeong J.
europepmc   +1 more source

Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria. [PDF]

FASEB J
Chaturvedi S, Mishra S, Pandya N, Kumar S, Negi R, Singh S, Patel Y, Tiwari S, Patel A, Gupta RK, Mishra SK, Singh A, Tripathi G, Tripathi A, Kumar A, Dubey PK.   +15 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

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

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