Results 81 to 90 of about 1,393 (127)

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. [PDF]

JIMD Rep
Yuskiv N, Saad A, Potter BK, Stockler-Ipsiroglu S, Mitchell JJ, Hawken S, Tingley K, Pugliese M, Lamoureux M, Chow AJ, Kronick JB, Wilson K, Feigenbaum A, Goobie S, Inbar-Feigenberg M, Little J, Mercimek-Andrews S, Pender A, Prasad C, Schulze A, Trakadis Y, Ho G, Vallance H, Austin V, Vandersteen A, Yu AC, Rockman-Greenberg C, Mhanni AA, Chakraborty P.   +28 more
europepmc   +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

Current state of the treatment landscape of phenylketonuria. [PDF]

Orphanet J Rare Dis
Nulmans I, Lequeue S, Desmet L, Neuckermans J, De Kock J.   +4 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

Fe(II) with Tris(1-pyrazolyl)methane Complex Increases Thermal Stability In Vitro and Activity In Vivo of the Mutant 447R Form of Mouse Tryptophan Hydroxylase 2. [PDF]

Int J Mol Sci
Terentieva EI, Komleva PD, Antonova SM, Moskaliuk VS, Khotskin NV, Shamshurin MV, Sokolov MN, Kulikov AV.   +7 more
europepmc   +1 more source

Navigating Adolescence with PKU: Adherence, Metabolic Control, and Wellbeing in a UK Clinical Centre. [PDF]

Nutrients
Pinto A, Daly A, Evans S, Ashmore C, MacDonald A.   +4 more
europepmc   +1 more source

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]

Nutrients
Verduci E, Tosi M, Zuvadelli J, Giorda S, Biasucci G, Leuzzi V, Spada M, Burlina A, Dionisi Vici C, PKU Expert Group.   +9 more
europepmc   +1 more source

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source