Results 131 to 140 of about 2,156 (206)

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies. [PDF]

Nutrients
Pinto A, Ahring K, Almeida MF, Ashmore C, Bailey S, Bélanger-Quintana A, Burlina A, Cole D, Dale C, Daly A, van Dam E, Dawson C, Evans S, Firman S, Ford S, Green D, Geberhiwot T, Hoekstra Y, Howe S, Ilgaz F, Loro C, McStravick N, Ramachandran R, Rawlins K, Robertson L, Rocha JC, Rodenburg I, Schulenburg-Brand D, van Spronsen FJ, Wilcox G, Woodall A, MacDonald A.   +31 more
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

Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review. [PDF]

Syst Rev
Słomińska D, Kałużny Ł, Walkowiak D.   +2 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

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

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

Analysis of <i>PAH</i> Genetic Variation and Phenotypic Diversity in the PAHvdb. [PDF]

Int J Mol Sci
Amirgazin A, Mambetpayeva B, Akhmetova A, Kairzhanova A, Shevtsov A.   +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