Results 131 to 140 of about 25,962 (237)

Heredity and Hope: The Case for Genetic Screening. [PDF]

, 2010
Haddow, Gill
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

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

Phenylketonuria. [PDF]

BMJ, 1970
B E, Clayton, O H, Wolff
openaire   +2 more sources

Oral Health Status of Children and Adolescents With Phenylketonuria: A Case-Control Study. [PDF]

Health Sci Rep
Ilkhanipoor H, Memarpour M, Ghorbani N, Amiri MA, Rafiee A, Vossoughi M.   +5 more
europepmc   +1 more source

Balancing personalized medicine and scalability in base editing for phenylketonuria. [PDF]

Mol Ther Nucleic Acids
Nicosia L.
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

Survey of information resources on newborn blood spot screening for parents and health professionals: a systematic review [PDF]

, 2005
Hargreaves, Katrina, Oliver, Sandy, Stewart, Ruth   +2 more
core   +1 more source

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
Hollander S, Valli B, Vucko E, Lah M, Sanchez-Valle A, Murray BM, Kritzer A, Sacharow S.   +7 more
europepmc   +1 more source