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Thōny, Beat
248  results:
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1

A phenylalanine‐free recombinant nutritional protein for th..:

Mücke, Yvonne ; Jablonka, Natalia ; Rimann, Nicole...
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Mouse models for inherited monoamine neurotransmitter disor..:

Thöny, Beat ; Ng, Joanne ; Kurian, Manju A...
Journal of Inherited Metabolic Disease.  47 (2024)  3 - p. 533-550 , 2024
Link: https://doi.org/10.1002/..
 
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3

State‐of‐the‐art 2023 on gene therapy for phenylketonuria:

Martinez, Michael ; Harding, Cary O. ; Schwank, Gerald.
Journal of Inherited Metabolic Disease.  47 (2023)  1 - p. 80-92 , 2023
Link: https://doi.org/10.1002/..
 
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4

PREVALENCE OF  VARIANTS AND GENOTYPES IN PATIENTS WITH L-AR..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Bisello, Giovanni...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107421 , 2023
Link: https://doi.org/10.1016/..
 
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5

Novel cerebrospinal fluid biomarkers of glucose transporter..:

Peters, Tessa M. A. ; Merx, Jona ; Kooijman, Pieter C....
Journal of Inherited Metabolic Disease.  46 (2022)  1 - p. 66-75 , 2022
Link: https://doi.org/10.1002/..
 
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6

Biochemical and behavioural profile of NTBC treated Tyrosin..:

van Ginkel, Willem G. ; Winn, Shelley R. ; Dudley, Sandra...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 9-17 , 2022
Link: https://doi.org/10.1016/..
 
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7

Intrabiliary infusion of naked DNA vectors targets periport..:

Deplazes, Sereina ; Schlegel, Andrea ; Song, Zhuolun...
Molecular Therapy - Methods & Clinical Development.  27 (2022)  - p. 352-367 , 2022
Link: https://doi.org/10.1016/..
 
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8

Modeling the cognitive effects of diet discontinuation in a..:

Winn, Shelley R. ; Dudley, Sandra ; Scherer, Tanja...
Molecular Genetics and Metabolism.  136 (2022)  1 - p. 46-64 , 2022
Link: https://doi.org/10.1016/..
 
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9

Delivery of non-viral naked DNA vectors to liver in small w..:

Chan, Tatjana ; Grisch-Chan, Hiu Man ; Schmierer, Philipp...
Molecular Therapy - Methods & Clinical Development.  24 (2022)  - p. 268-279 , 2022
Link: https://doi.org/10.1016/..
 
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10

Core–Shell Structured Chitosan‐Polyethylenimine Nanoparticl..:

Casper, Jens ; Nicolle, Laura ; Willimann, Melanie...
Macromolecular Bioscience.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1002/..
 
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11

In vivo cytidine base editing of hepatocytes without detect..:

Villiger, Lukas ; Rothgangl, Tanja ; Witzigmann, Dominik...
Nature Biomedical Engineering.  5 (2021)  2 - p. 179-189 , 2021
Link: https://doi.org/10.1038/..
 
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12

Peripheral biopterin and neopterin in schizophrenia and dep..:

Klaus, Federica ; Guetter, Karoline ; Schlegel, Rebecca...
Psychiatry Research.  297 (2021)  - p. 113745 , 2021
Link: https://doi.org/10.1016/..
 
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13

Sapropterin dihydrochloride therapy in dihydropteridine red..:

Lourenço, Charles Marques ; Dovidio, Janaina ; Lopes, Isabela F....
JIMD Reports.  61 (2021)  1 - p. 19-24 , 2021
Link: https://doi.org/10.1002/..
 
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14

Molecular and metabolic bases of tetrahydrobiopterin (BH4) ..:

Himmelreich, Nastassja ; Blau, Nenad ; Thöny, Beat
Molecular Genetics and Metabolism.  133 (2021)  2 - p. 123-136 , 2021
Link: https://doi.org/10.1016/..
 
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15

The Pah-R261Q mouse reveals oxidative stress associated wit..:

Aubi, Oscar ; Prestegård, Karina S. ; Jung-KC, Kunwar...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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