Results 91 to 100 of about 73,449 (206)

THE EFFECTS OF PHENYLKETONURIA AND HYPERPHENYLALANINEMIA ON COGNITION (PKU, INTELLIGENCE, COGNITION)

, 1984
Researchers studying the degree of success of low phenylalanine diets in preventing cognitive loss in phenylketonuric children have produced conflicting findings. Also, little research has been performed to determine whether hyperphenylalaninemia affects
LIPTON, JOAN
core  

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

, 2008
We describe a unique presentation of autosomal recessive (AR) GTP cyclohydrolase I (GTPCH) deficiency, with severe CNS involvement but without hyperphenylalaninemia.
Rupar, T, Horvath, G A, Stockler-Ipsiroglu, S G, Lillquist, Y P, Connolly, M, Salvarinova-Zivkovic, R, Hyland, K, Blau, N, Waters, P J   +8 more
core   +1 more source

Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia

, 2000
Children with phenylalanine-hydroxylase deficiency (type-I hyperphenylalaninemia, HPA) follow a low-phenylalanine diet, severely restricted in animal foods and long-chain polyunsaturated fatty acids (LCPUFA). Consequently, they have a poor LCPUFA status,
Giacomo Biasucci, M. G. Bruzzese, Enrica Riva, A. Rottoli, M. Bonvissuto, Amilcare Rottoli, C. Agostoni, MariaGrazia Bruzzese, M. Giovannini, E. Riva, Marcello Giovannini, Milena Bonvissuto, Carlo Agostoni, N. Massetto, Nicoletta Massetto, G. Biasucci   +15 more
core   +1 more source

Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia

, 2015
Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids.
Zukić, Branka, Klaassen, Kristel, Sarajlija, Adrijan, Ugrin, Milena, Đorđević, Maja, Kecman, Bozica, Desviat, Lourdes R., Stojiljković, Maja, Pavlović, Sonja, Perez, Belen   +9 more
core   +1 more source

Phenylketonuria and glycogen storage disease type III in sibs of one family

The Turkish Journal of Pediatrics, 2002
Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin.
Tuncay Yilmazer, Albert H Van Gennip, Nico G G M Abeling, Imran Ozalp, Turgay Coşkun, Henk D Bakker   +5 more
doaj  

Newborn PKU screening in Turkey: at present and organization for future

The Turkish Journal of Pediatrics, 2001
At present, pkenylketonuria screening is a national child health program in Turkey which is carried out collaboratively by the Ministry of Health and three University Children's Hospitals in Ankara, Istanbul and Izmir.
I Ozalp, T Coşkun, A Tokatli, H S Kalkanoğlu, A Dursun, S Tokol, G Köksal, M Ozgüc, R Köse   +8 more
doaj  

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 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

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

<i>DNAJC12</i> p.Asp44Gly associated with mild hyperphenylalaninemia and migraine-like headaches: Structural and deep learning analyses. [PDF]

Mol Genet Metab Rep
Zhang J, Xiao B, Wang Z, Li X.
europepmc   +1 more source