Results 141 to 150 of about 16,591 (243)

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria. [PDF]

Eur J Neurol
Cannizzo S, Quoidbach V, Sheehan-Gilroy B, Hagedorn T, Bak A, Dickson SL, Treacy EP, Hermida A, MacDonald A, Venegas E, O'Byrne J, Scarpa M, Van Spronsen F, Lange E, Buckinx T, Monavari A, Dahl SV, Trieste L, Turchetti G.   +18 more
europepmc   +1 more source

Improved dietary control results in improvements in indices of white matter structure in adults with phenylketonuria: the ReDAPT study. [PDF]

Acta Neuropsychiatr
Kang MJY, Adamson C, Malpas CB, Winton-Brown T, Burgess N, Fazio T, Velakoulis D, Desmond P, Venkatraman V, De Jong G, Walterfang M.   +10 more
europepmc   +1 more source

Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria. [PDF]

EXCLI J
Yang F, Li HF, Tang WJ, Zhu JP, Qiu JG, Cai TE, Yu LM, Yu Y.   +7 more
europepmc   +1 more source

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype. [PDF]

Mol Genet Metab Rep
Demirbas D, Waisbren SE, Bodamer O, Hung CY, Rajabi F, Berry G, Levy HL.   +6 more
europepmc   +1 more source

Metabolomic profiling in phenylketonuria: a systematic review of human studies. [PDF]

Metabolomics
Gonzalez-Rodriguez A, Urpi-Sarda M, Barrau-Martinez B, Campins-Machado FM, Bakkali-Aissaoui H, Pané A, Moreno PJ, Ortega E, Garcia-Villoria J, Ormazabal A, Garcia-Arenas D, Junqué C, Garrabou G, Llorach R, Consortium PKU.cat.   +14 more
europepmc   +1 more source

Hospital settles PKU case

, 1980

core  

A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders. [PDF]

J Anal Methods Chem
Bhattacharyya D, Kropielnicki A, Lee BL, Khaniani Y, LeVatte MA, Wishart DS.   +5 more
europepmc   +1 more source

The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis. [PDF]

Orphanet J Rare Dis
Faraji S, Tabatabaee Jabali SM, Abolhasani MH, Amirkashani D, Haghdoost A, Shadnoush M, Talebi S, Ranjbar G, Talebi S, Mahmoudi M, Eshraghi P, Najafimoghadam T, Lesani Gouya B, Nematy M, Norouzy A.   +14 more
europepmc   +1 more source

Exploring subthreshold functional network alterations in women with phenylketonuria by higher criticism. [PDF]

BMC Res Notes
Sundermann B, Feldmann R, Mathys C, Garde S, Rau JMH, McLeod A, Weglage J, Pfleiderer B.   +7 more
europepmc   +1 more source

Protein and Micronutrient Intake After Two Years of Sapropterin Treatment in PKU. [PDF]

Nutrients
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +1 more source