Results 141 to 150 of about 19,693 (207)

Phenylketonuria and type 1 diabetes: a clinical and nutritional challenge in a young adult-a case report. [PDF]

Acta Diabetol
Piccolo C, de Candia S, Natalicchio A, Di Molfetta S, Caruso I, Laviola L, Giorgino F, Sorice GP.   +7 more
europepmc   +1 more source

The Simplified Diet for PKU: Practices of Swedish Metabolic Dietitians. [PDF]

Nutrients
Kanthe M, Widenberg Törnquist C, de Koning TJ.   +2 more
europepmc   +1 more source

Progress and Prospects of Newborn Screening in China. [PDF]

Int J Neonatal Screen
Hao X, Huang X, Yang R, Yang X, Huang X, Zhao Z.   +5 more
europepmc   +1 more source

R2Tg retrotransposon mediated targeted integration of exogenous genes into the 28S rDNA locus in mammalian cell lines for PKU gene therapy. [PDF]

Front Genome Ed
Wang X, Wen Z, Xu R, Shi W, Long Y, Zhan X, Su R, Fei J, Li Y.   +8 more
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

Exploring Subpopulations for Epidemiological Precision Nutrition Research: The Example of <i>Phenylalanine Hydroxylase (PAH)</i> Genetic Variation. [PDF]

Nutrients
Dhawan A, Khan SM, Fennell ML, Cho CE, Monk JM, Keathley JR.   +5 more
europepmc   +1 more source

Oral Mycobiome Alterations in Children with Phenylketonuria: Associations with Dietary Intake and Metabolic Context-A Pilot Study. [PDF]

Nutrients
Ostrowska M, Komoń-Janczara E, Mikołuć B, Iłowiecka K, Jarczak J, Zagórska J, Zambrzycka P, Turroni S, Szczerba H.   +8 more
europepmc   +1 more source

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation. [PDF]

Orphanet J Rare Dis
Muntau AC, Zhang R, Chakrapani A, Hamazaki T, Lah M, Ruebel DJ, Vijay S, Zori RT, Feillet F, Longo N, Northrup H, Hollander S, O'Connell T, Woolley JJ, Tomazos I.   +14 more
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

Blood Phenylalanine Control in Paediatric and Adult Centres in the UK: Data from 2012-2018. [PDF]

Nutrients
Pinto A, Ashmore C, Ash J, Cochrane B, Cole D, Bailey S, Dale C, Daly A, Dawson C, Evans S, Firman S, Ford S, Grimsley A, Green D, Geberhiwot T, Howe S, Hunjan I, Ilgaz F, Jackson R, McStravick N, Newby C, Oxley N, Ramachandran R, Rawlins K, Robertson L, Schulenburg-Brand D, Shah K, Lemonde H, Skeath R, Terry A, Wilcox G, Woodall A, Van Wyk K, Rocha JC, MacDonald A.   +34 more
europepmc   +1 more source