Results 111 to 120 of about 2,156 (206)

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Heliyon
Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity.
Shuyao Zhu, Qi Hu, Yunxia Yang, Hui Zhu, Jin Wang, Zemin Luo, Mincai Ou, Ai Chen, Yu Huang, Fu Xiong, Jiaji Zhou, Jinglin Liu, Xunming Lei, Lan Zeng   +13 more
doaj   +1 more source

Sepiapterin Enables Liberalisation of Natural Protein Intake While Improving Metabolic Control in Adolescents with Phenylketonuria. [PDF]

Nutrients
Pinto A, Daly A, Vijay S, Evans S, MacDonald A.   +4 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

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

Revisione del manoscritto

, 2009
Sapropterin dihydrochloride (Kuvan), hereafter referred to as sapropterin, is a synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the
GIOVANNINI, MARCELLO
core  

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

Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis. [PDF]

Online J Public Health Inform
Yang S, Song K, Chen Q, Jiang J, Wang L.
europepmc   +1 more source

Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review. [PDF]

Nutrients
Jones H, Strehle EM.
europepmc   +1 more source

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023. [PDF]

Orphanet J Rare Dis
Boehnke A, Müller LM, Heidecke C, Benson A, Neubauer AS, Muntau AC.   +5 more
europepmc   +1 more source

Psychometric validation of the NIH Toolbox for use with individuals with phenylketonuria: Evidence from the PHEFREE consortium longitudinal study. [PDF]

J Int Neuropsychol Soc
Tardiff CT, Christ SE, White DA, Dixon MM, Goodlett BD, Janzen DM, Kivel M, Martin A, Sutcliffe MS, Harding CO.   +9 more
europepmc   +1 more source