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Molecular Genetics and Metabolism|November 28, 2017
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemiasNenad Blau, Aurora Martinez, Georg F Hoffmann, et al.Journal of Inherited Metabolic Disease|July 4, 2023
State-of-the-art 2023 on gene therapy for phenylketonuriaMichael Martinez, Cary O Harding, Gerald Schwank, et al.Human Gene Therapy|November 18, 2009
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuriaAlexandre Rebuffat, Cary O Harding, Zhaobing Ding, et al.Molecular Genetics and Metabolism|December 25, 2010
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variantsDea Adamsen, David Meili, Nenad Blau, et al.Molecular Genetics and Metabolism|December 15, 2015
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)Shelley R Winn, Tanja Scherer, Beat Thöny, et al.Molecular Genetics and Metabolism|February 4, 2012
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometryCaroline Heintz, Heinz Troxler, Aurora Martinez, et al.Human Mutation|May 31, 2012
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse modelChristineh N Sarkissian, Ming Ying, Tanja Scherer, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 23, 2016
Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutationFrançoise Delmelle, Beat Thöny, Philippe Clapuyt, et al.Human Gene Therapy|August 1, 2019
State-of-the-Art 2019 on Gene Therapy for PhenylketonuriaHiu Man Grisch-Chan, Gerald Schwank, Cary O Harding, et al.Autism Research and Treatment|December 9, 2020
Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile AutismVincent T Ramaekers, Jeffrey M Sequeira, Beat Thöny, et al.Pageof 11