Results 81 to 90 of about 5,435 (148)

BH4 deficiency with unusual presentations: Challenges and lessons [PDF]

, 2016
Elsayed, Solaf M, Thöny, Beat
core   +1 more source

Quality of Life in Patients with Phenylketonuria: A Systematic Review. [PDF]

Adv Biomed Res
Jahangiri Z, Rostampour N, Hovsepian S, Chegini R, Hashemipour M.   +4 more
europepmc   +1 more source

Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency [PDF]

, 2017
Blau, Nenad, Brandt, Niels Jacob, Heizmann, Claus W., Leimbacher, Walter, Oppliger, Tanja, Scheibenreiter, Susanne, Thony, Beat   +6 more
core  

Pteridines, sterols, and indole derivatives from the lithistid sponge Corallistes undulatus of the Coral Sea [PDF]

, 1993
D'Ambrosio, M., Debitus, Cécile, Guerriero, A., Pietra, F., Ribes, Olivier   +4 more
core   +1 more source

Guinea pig ascorbate status predicts tetrahydrobiopterin plasma concentration and oxidation ratio in vivo [PDF]

, 2013
Andersen, Stine Hasselholt, Lykkesfeldt, Jens, Mortensen, Alan, Tveden-Nyborg, Pernille   +3 more
core   +1 more source

Tryptophan Hydroxylase 1 Regulates Tryptophan and Its Metabolites. [PDF]

Int J Mol Sci
Nonogaki K, Kaji T.
europepmc   +1 more source

7-Substituted Pterins: Formation in Carbinolamine Dehydratase Deficiency [PDF]

, 2017
Adler, C., Curtius, H.-C, Küster, T., Rebrin, I.   +3 more
core  

A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. [PDF]

Int J Neonatal Screen
Donnelly C, Estrella L, Ginevic I, Ganesh J.   +3 more
europepmc   +1 more source

Structure-based design, and development of amidinyl, amidoximyl and hydroxamic acid based organic molecules as novel antimalarial drug candidates. [PDF]

Arab J Chem
Adebayo GP, Oduselu GO, Aderohunmu DV, Klika KD, Olasehinde GI, Ajani OO, Adebiyi E.   +6 more
europepmc   +1 more source

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria [PDF]

, 2018
Blau, Nenad, Kern, Ilse, Kierat, Lucja, Opladen, Thomas, Thöny, Beat, Zurflüh, Marcel   +5 more
core