Results 111 to 120 of about 1,551 (187)

A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency. [PDF]

Mol Syndromol
Peker A, Uzuner SY, Clark ÖA, Demirelli GD, Paksoy BA, Soyuçen E, Mıhçı E.   +6 more
europepmc   +1 more source

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

, 2014
Barbara K. Burton, Mitzie Grant, Annette Feigenbaum, Rani H. Singh, Robert L. Hendren, Komudi Siriwardena, John A. Phillips, Amarilis Sanchez‐Valle, Susan E. Waisbren, Jane Gillis, Suyash Prasad, Markus Meriläinen, William Lang, C. Zhang, Shui Yu, Stephen M. Stahl   +15 more
openalex   +1 more source

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

, 2014
Nicola Longo, Komudi Siriwardena, Annette Feigenbaum, David Dimmock, Barbara K. Burton, Sylvia Stöckler, Susan E. Waisbren, William Lang, Elaina Jurecki, Charlie Zhang, Suyash Prasad   +10 more
openalex   +1 more source

A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH₄)

, 2014
Luis Aldámiz‐Echevarría, María L. Couce, Marta Llarena, Fernando Andrade   +3 more
openalex   +2 more sources

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

, 2021
Susan E. Waisbren, Barbara K. Burton, Annette Feigenbaum, Laura Konczal, Joshua Lilienstein, Shawn E. McCandless, Richard Rowell, Amarilis Sanchez‐Valle, Kaleigh Bulloch Whitehall, Nicola Longo   +9 more
openalex   +1 more source

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes. [PDF]

Neurol Genet
Manti F, Ricciardi G, Nardecchia F, Tolve M, Artiola C, Carbone MT, Carducci C, Mei D, Porta F, Ortolano R, Candela E, Burlina A, Guerrini R, Pisani F, Angeloni A, Leuzzi V.   +15 more
europepmc   +1 more source

Impact of gut probiotic metabolites on phenylketonuria. [PDF]

Front Cell Infect Microbiol
Kalla Veedu A, Vijayakumar S, Joseph HA, Thomas J.   +3 more
europepmc   +1 more source

Comprehensive Evaluation of <i>Tectona grandis</i> L.f.: Integrated <i>In Vitro</i> and <i>In Silico</i> Analysis of Steroid 5α-Reductase Inhibition and Anti-Inflammatory Properties. [PDF]

ACS Omega
Timjan S, Hengphasatporn K, Inprasit J, Ingkaninan K, Shigeta Y, Tanuphol N, Temkitthawon P.   +6 more
europepmc   +1 more source