Results 101 to 110 of about 73,449 (206)

Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis. [PDF]

Sage Open Pediatr
Dóczi TI, Vaghela S, Obeng GD, Ameyaw D, Zelei T, Vokó Z, Sikirica V, Varga O, Kovács G, Józwiak-Hagymásy J, Perera S.   +10 more
europepmc   +1 more source

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk. [PDF]

Genes (Basel)
Tummolo A, Tabaku O, Meneleo E, Pierri CL, De Grassi A, Di Tullio V, Paterno G, De Giovanni D.   +7 more
europepmc   +1 more source

Hyperphenylalaninemia reduces creatine kinase activity in the cerebral cortex of rats

, 2003
Phenylketonuria (PKU) is a metabolic disorder accumulating phenylalanine (Phe) and its metabolites in plasma and tissues of the patients. Considering that phenylalanine is the main neurotoxic metabolite, and brain energy homeostasis seems to be affected ...
Costabeber, Elisa, Kessler, Adriana, Wannmacher, Clovis Milton Duval, Wyse, Angela Terezinha de Souza, Wajner, Moacir, Dutra Filho, Carlos Severo   +5 more
core  

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

Hph-1: A mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis

, 1988
Click on the link to access the article (may not be free).Ethylnitrosourea mutagenesis of spermatogonial stem cells and a three-generation breeding scheme were used to screen for recessive mutations that cause defects in phenylalanine metabolism leading ...
Bode, Vernon C., Guenet, J. L., Simon, D., McDonald, J. David   +3 more
core  

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China. [PDF]

Int J Neonatal Screen
Yao Q, Huang S, Kong F, Wu M, Qiu X, Zhao P, Zeng Y, Luo J, Zhou J, Xu L.   +9 more
europepmc   +1 more source

Minicells derived from <i>Escherichia coli</i> Nissle 1917 for efficient phenylalanine degradation. [PDF]

Appl Environ Microbiol
Tian X, Ju K, Zeng J, Pang X, Chen J.
europepmc   +1 more source

Biopterin-Responsive Hyperphenylalaninemia

Journal of Nutritional Science and Vitaminology, 1992
openaire   +3 more sources

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

Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant. [PDF]

Sci Rep
Bik-Multanowski M, Bobis-Wozowicz S, Piejko M, Madetko-Talowska A, Szewczyk K, Kopaczka-Koziol K, Lasota S, Jankowska U, Skupien-Rabian B, Korycinska-Chaaban D, Krzywdzinska-Rogowska A, Steinlein OK.   +11 more
europepmc   +1 more source