Results 151 to 160 of about 2,204 (208)

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up. [PDF]

Nutrients
Consentino MC, La Spina L, Meli C, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +12 more
europepmc   +1 more source

Serotonin dysfunction in ADHD. [PDF]

J Neurodev Disord
Jackson EF, Riley TB, Overton PG.
europepmc   +1 more source

Open, Non-Comparative Phase III Clinical Study to Evaluate the Efficacy and Safety of Sapropterin in Patients with Phenylketonuria and Hyperphenylalaninemia

, 2014
Т.V. Bushueva, Л. М. Кузенкова, Т.Э. Боровик, Л. П. Назаренко, G. N. Seitova, Maria Filimonova, Н. А. Пичкур, N.V. Samonenko, T.A. Shkurko, Э. Н. Ахмадеева, А. К. Марданова, E.R. Garifullina, O. P. Kovtun, Yu.L. Bazhenova, И Л Алимова, E.A. Kostyakova, L. I. Minaycheva, Olga A. Salyukova, V.M. Sivokha, Oleg Rozenson   +19 more
openalex   +2 more sources

Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels. [PDF]

Int J Environ Res Public Health
Feldmann R, Och U, Beckmann LS, Weglage J, Rutsch F.   +4 more
europepmc   +1 more source

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model. [PDF]

Orphanet J Rare Dis
Wang S, Shen M, Pang B, Zhou B, Yuan Y, Lu M, Deng X, Yang M, Liu S, Wang Q, Xue M, Xia Q, Zhang Z.   +12 more
europepmc   +1 more source

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature. [PDF]

Nutrients
Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +15 more
europepmc   +1 more source

Oral sapropterin acutely augments reflex vasodilation in aged human skin through nitric oxide-dependent mechanisms

, 2013
Anna E. Stanhewicz, Lacy M. Alexander, W. Larry Kenney   +2 more
openalex   +2 more sources

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride

, 2014
Sylvia Stöckler‐Ipsiroglu, Nataliya Yuskiv, Ramona Salvarinova, Delia Apatean, Gloria Y.F. Ho, Barbara Cheng, Alette Giezen, Yolanda Lillquist, Keiko Ueda   +8 more
openalex   +1 more source

Amelioration of radiation-induced skin injury by tetrahydrobiopterin: preclinical study and phase II trial. [PDF]

Mol Biomed
Li K, Song B, Yin R, Zhang S.
europepmc   +1 more source

The struggle that is phenylketonuria: What do the patients and caregivers suffer from. [PDF]

Medicine (Baltimore)
Demirel D, Sivri S.
europepmc   +1 more source