Results 171 to 180 of about 25,962 (237)

The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria. [PDF]

Int J Stem Cells
Yu I, Park H, Lee J, Jeong J.
europepmc   +1 more source

Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core  

The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria. [PDF]

Orphanet J Rare Dis
van Wegberg AMJ, Romani C, van Spronsen FJ.   +2 more
europepmc   +1 more source

Experimental Animal Models of Phenylketonuria: Pros and Cons. [PDF]

Int J Mol Sci
Bobrova NA, Lyubimova DI, Mishina DM, Lobanova VS, Valieva SI, Mityaeva ON, Feoktistova SG, Volchkov PY.   +7 more
europepmc   +1 more source

Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status. [PDF]

Front Pharmacol
Gao L, Smith N, Kong R.
europepmc   +1 more source

Base editing strategies for <i>in vivo</i> correction of two highly recurrent phenylketonuria variants. [PDF]

Mol Ther Nucleic Acids
Quigley A, Jindal I, Campion T, Rutherford D, Han Y, Quigley W, Qu P, Musunuru K, Ahrens-Nicklas R, Hong X, Wang X.   +10 more
europepmc   +1 more source

Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis. [PDF]

Sage Open Pediatr
Dóczi TI, Vaghela S, Obeng GD, Ameyaw D, Zelei T, Vokó Z, Sikirica V, Varga O, Kovács G, Józwiak-Hagymásy J, Perera S.   +10 more
europepmc   +1 more source

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

Growth assessment in children with phenylketonuria. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Ibrahim BA, Abdullah WH, Akram NN.
europepmc   +1 more source

Ultra-sensitive nanostructured electrochemical immunosensor for selective monitoring of L-phenylalanine in phenylketonuria patients. [PDF]

Mikrochim Acta
Houston RL, Law ECY, Izake EL.
europepmc   +1 more source