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Molecular Genetics and Metabolism|July 15, 2011
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)Patricia Dill, Jacques Schneider, Peter Weber, et al.Psychiatry Research|February 1, 2021
Peripheral biopterin and neopterin in schizophrenia and depressionFederica Klaus, Karoline Guetter, Rebecca Schlegel, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|December 8, 2016
A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopesGabriella Allegri, Sereina Deplazes, Hiu Man Grisch-Chan, et al.Human Mutation|March 13, 2009
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tailDavid Meili, Jana Kralovicova, Julian Zagalak, et al.Molecular Genetics and Metabolism|January 20, 2004
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administrationBetina Fiege, Diana Ballhausen, Lucja Kierat, et al.Molecular Genetics and Metabolism|September 6, 2011
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH allelesNatella Kostandyan, Corinne Britschgi, Albert Matevosyan, et al.Journal of Neurochemistry|April 19, 2008
Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylaseBeat Thöny, Ana C Calvo, Tanja Scherer, et al.Journal of Inherited Metabolic Disease|October 25, 2024
Therapeutic liver cell transplantation to treat murine PKUMelanie Willimann, Hiu Man Grisch-Chan, Nicole Rimann, et al.Circulation Research|August 21, 2007
Regulation of tetrahydrobiopterin biosynthesis by shear stressJulian D Widder, Wei Chen, Li Li, et al.Biorxiv : the Preprint Server for Biology|June 10, 2024
AAV Capsid Screening for Translational Pig Research Using a Mouse Xenograft Liver ModelMelanie Willimann, Amita Tiyaboonchai, Kei Adachi, et al.Pageof 11