Results 131 to 140 of about 538,734 (195)

Analysis of <i>PAH</i> Genetic Variation and Phenotypic Diversity in the PAHvdb. [PDF]

Int J Mol Sci
Amirgazin A, Mambetpayeva B, Akhmetova A, Kairzhanova A, Shevtsov A.   +4 more
europepmc   +1 more source

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation. [PDF]

Int J Mol Sci
Lotnik EE, Chukhrova AL, Ryadninskaya NV, Kadnikova VA, Zakharova EY, Baydakova GV, Osadchii AR, Anisimova IV, Voronin SV, Kutsev SI, Savostyanov KV, Bilalov FS, Koroteev AL, Trofimov DY, Bairova TA, Seitova GN, Mordanov SV, Matulevich SA, Golikhina TA, Nikolaeva EB, Polyakov AV, Shchagina OA.   +21 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

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

Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India. [PDF]

Orphanet J Rare Dis
Hamid R, Gowda VK, Tauro L, Mishra R.
europepmc   +1 more source

Uncontrolled hypertension in siblings: an unsuspected diagnosis. [PDF]

AJOG Glob Rep
Aleem S, Kumar S, Guddeti A, Hari Kumar K.   +3 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

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

Nutrients
Jones H, Strehle EM.
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