A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in <i>ALDH7A1</i>: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment. [PDF]
Ambrose A +5 more
europepmc +1 more source
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients. [PDF]
van Ginkel WG +11 more
europepmc +1 more source
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]
Das AM +18 more
europepmc +1 more source
Thermotropic Liquid Crystalline and Photochemical Phase Transition Behavior of Octa[8-{4-(4'-cyanophenylazo)phenoxy}]octyl and Octa[8-{4-(4'-cyanophenylazo) phenoxycarbonyl}]heptanoated Disaccharides [PDF]
Hyo Gap Kim +3 more
openalex +1 more source
Highly Selective Carbonylation of Olefins Using CO<sub>2</sub> and H<sub>2</sub>. [PDF]
Vellala Syed Ali MN +6 more
europepmc +1 more source
Multi-Omics Approach for Studying Tears in Treatment-Naïve Glaucoma Patients. [PDF]
Rossi C +9 more
europepmc +1 more source
Aromatypicity of Austrian Pinot Blanc Wines. [PDF]
Philipp C +5 more
europepmc +1 more source
Practical synthesis of methyl 7-(3-hydroxy-5-oxocyclopent-1-en-1-yl)-heptanoate
Xinpeng Jiang +4 more
openalex +1 more source

