Results 181 to 190 of about 25,909 (224)

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns. [PDF]

Commun Med (Lond)
Hao C, Hu X, Guo R, Qi Z, Xie L, Jin F, Li H, Ni X, Li W.   +8 more
europepmc   +1 more source

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source

Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population. [PDF]

JMIR Form Res
Singh S, Kluen L, Curtis K, Norel R, Agurto C, Grinspoon E, Hawks Z, Christ S, Waisbren S, Cecchi G, Germine L.   +10 more
europepmc   +1 more source

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report. [PDF]

J Clin Med
Donarska J, Szablewska AW, Wierzba J.
europepmc   +1 more source

Therapeutic effect of histone deacetylase 6 inhibitor for a mouse model of phenylketonuria. [PDF]

Sci Rep
Choi JE, Park S, Song H, Hwang IT, Jung SC, Kim HS.   +5 more
europepmc   +1 more source

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU [PDF]

, 2018
Blau, Nenad
core  

Psychosocial adaptation of children and adolescents with phenylketonuria in Korea. [PDF]

Mol Genet Metab Rep
Lee J, Suh ES.
europepmc   +1 more source

Evaluating the quality and reliability of YouTube videos about phenylketonuria. [PDF]

Medicine (Baltimore)
Kulu B, Uyar SBŞ, Kulu B, Hanci V.
europepmc   +1 more source

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Phenylketonuria

The Lancet, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad, van Spronsen, Francjan J, Levy, Harvey L   +2 more
openaire   +3 more sources