Results 151 to 160 of about 18,327 (286)

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial. [PDF]

J Comp Eff Res
Muntau AC, Gallagher S, Lah M, Belanger-Quintana A, Longo N.   +4 more
europepmc   +1 more source

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence [PDF]

Domingo González‐Lamuño, Carmenmelina Morencos, Francisco Arrieta, Eva Venegas, Germán Vicente‐Rodríguez, José A. Casajús, María L. Couce, Luis Aldámiz‐Echevarría   +7 more
openalex   +1 more source

Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. [PDF]

, 1995
Per Guldberg, K. Henriksen, Ilkka Sipilä, F. Güttler, Albert de la Chapelle   +4 more
openalex   +1 more source

Expression of phenylalanine ammonia lyase as an intracellularly free and extracellularly cell surface-immobilized enzyme on a gut microbe as a live biotherapeutic for phenylketonuria. [PDF]

Sci China Life Sci, 2023
Jiang Y, Sun B, Qian F, Dong F, Xu C, Zhong W, Huang R, Zhai Q, Jiang Y, Yang S.   +9 more
europepmc   +1 more source

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

Phenylalanine hydroxylase deficiency

Genetics in Medicine, 2011
John J. Mitchell, Y. Trakadis, C. Scriver   +2 more
semanticscholar   +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

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

Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. [PDF]

, 1993
D. P. Brenton, Jean Chapple, B. J. Clark, G. Curzon, Dylan Davidson, S. C. Laing, A Lister- Cheese, Ian R. McDonald, S.L. Malcolm, R. J. Pollitt, Derrick Quinn, G Rylance, Isabel Smith, Ann Stewart, R. Surtees, Alan J. Thompson, Linda Tyfield, M. J. Whittle, C. R. Scriver   +18 more
openalex   +1 more source

Phenylketonuria [PDF]

, 1958
Lehman, Philip Charles
core   +1 more source