Results 121 to 130 of about 16,232 (245)

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]

J Inherit Metab Dis
Longo N, Burton BK, Vaghela S, Mu F, Wang A, Smith J, Reichert E, Simpson RB, Sikirica V, Perera S.   +9 more
europepmc   +1 more source

Patogenesis, Skrining, Diagnosis, dan Penatalaksanaan Phenylketonuria

, 2015
Phenylketonuria merupakan penyakit kelainan metabolisme asam amino bawaan akibat mutasi gen phenylalanine hydroxylase (PAH) yang terletak pada kromosom 12q23.2.
Kurniawan, L. B. (Liong)
core  

Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.

Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated adults with phenylketonuria exhibit alterations in cortical grey matter compared ...
Everts, Regula, Hochuli, Michel, Muri, Raphaela, McKinley, Richard, Wiest, Roland, Trepp, Roman, Maissen-Abgottspon, Stephanie, Kreis, Roland, Rummel, Christian, Rebsamen, Michael, Pospieszny, Katarzyna, Radojewski, Piotr   +11 more
core   +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

Comment on Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. <i>Int. J. Mol. Sci</i>. 2024, <i>25</i>, 5065. [PDF]

Int J Mol Sci
Iqhrammullah M.
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

Phenylketonuria and the Life with the Disease.

, 2015
Phenylketonuria is an autosomal hereditary metabolic disorder of amino acids caused by insufficient activity of liver enzyme phenylalanine hydroxylase, which is necessary for metabolism of the essential amino acid phenylalanine to tyrosine.
JÁNSKÁ, Karin
core  

Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. <i>Int. J. Mol. Sci.</i> 2024, <i>25</i>, 5065". [PDF]

Int J Mol Sci
Jamka M, Bokayeva K, Walkowiak D, Duś-Żuchowska M, Herzig KH, Walkowiak J.   +5 more
europepmc   +1 more source

Editorial: Impact of dietary factors on human gut microbiota and gastrointestinal endocrinology. [PDF]

Front Endocrinol (Lausanne)
Hansson P, Myhrstad MCW, Costantini L.
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