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Journal of Inherited Metabolic Disease|January 3, 2024
Mouse models for inherited monoamine neurotransmitter disordersBeat Thöny, Joanne Ng, Manju A Kurian, et al.Plos One|July 30, 2011
Influence of early stress on social abilities and serotonergic functions across generations in miceTamara B Franklin, Natacha Linder, Holger Russig, et al.Molecular Genetics and Metabolism|November 18, 2005
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal miceRossana Scavelli, Zhaobing Ding, Nenad Blau, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|February 22, 2014
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiencySandra P Toelle, David Wille, Bernhard Schmitt, et al.Molecular Genetics and Metabolism|February 22, 2002
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiencyGiovanna Zorzi, Udo Redweik, Heike Trippe, et al.Biochimica Et Biophysica Acta|January 20, 2004
Nuclear localization of tetrahydrobiopterin biosynthetic enzymesLina Elzaouk, Stephanie Laufs, Dirk Heerklotz, et al.Journal of Inherited Metabolic Disease|March 19, 2011
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experienceThomas Opladen, Bettina Abu Seda, Anahita Rassi, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|March 26, 2008
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating systemZhaobing Ding, Cary O Harding, Alexandre Rebuffat, et al.Molecular Genetics and Metabolism|January 20, 2004
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuriaCary O Harding, Mark Neff, Krzysztof Wild, et al.Gene|October 21, 2015
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria populationCorinne Gemperle-Britschgi, Daniela Iorgulescu, Monica Alina Mager, et al.Pageof 11