Results 71 to 80 of about 69,044 (178)

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  

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

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

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China. [PDF]

Orphanet J Rare Dis
Wang Q, Duan J, Zhao X, Qi Z.
europepmc   +1 more source

Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management. [PDF]

Ann Intern Med Clin Cases
Jensen J, Merritt E, Olarewaju BA, Tejon JB, Asif MB, Lanpher BC, Osundiji MA.   +6 more
europepmc   +1 more source

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia. [PDF]

Sisli Etfal Hastan Tip Bul
Yildiz SO, Mungan HNO, Kor D, Bulut FD, Yilmaz BS, Kilavuz S, Seydaoglu G.   +6 more
europepmc   +1 more source

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction. [PDF]

Diagnostics (Basel)
Luo L, Chen C, Cheung CKY, Li Y, Dai X, Zeng T, Wang Y.   +6 more
europepmc   +1 more source

Biopterin-Responsive Hyperphenylalaninemia

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

Correction: Treatment effects of psychological interventions on self‑harm in individuals with PTSD: a systematic review and meta‑analysis protocol. [PDF]

Syst Rev
Tsang A, Clements C, Robinson C, Taylor PJ.   +3 more
europepmc   +1 more source