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Gautschi, Matthias
145  results:
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1

Nocturnal vestibular stimulation using a rocking bed improv..:

Breuss, Alexander ; Strasser, Marco ; Nuoffer, Jean‐Marc...
Journal of Sleep Research.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Empagliflozin for treating neutropenia and neutrophil dysfu..:

Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108486 , 2024
Link: https://doi.org/10.1016/..
 
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3

Brain function in classic galactosemia, a galactosemia netw..:

Panis, Bianca ; Vos, E. Naomi ; Barić, Ivo...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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4

Inborn errors of the malate aspartate shuttle – Update on p..:

Koch, Jasmine ; Broeks, Melissa H. ; Gautschi, Matthias..
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108520 , 2024
Link: https://doi.org/10.1016/..
 
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5

Results of a phase III, randomized, placebo-controlled cros..:

Fields, Taylor ; Bremova-Ertl, Tatiana ; Ramaswami, Uma...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107827 , 2024
Link: https://doi.org/10.1016/..
 
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6

Inborn Errors of Metabolism with Ataxia: Current and Future..:

Bremova-Ertl, Tatiana ; Hofmann, Jan ; Stucki, Janine..
Cells.  12 (2023)  18 - p. 2314 , 2023
Link: https://doi.org/10.3390/..
 
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7

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HN..:

Grassi, Mara ; Laubscher, Bernard ; Pandey, Amit V....
Molecular Syndromology.  14 (2023)  4 - p. 347-362 , 2023
Link: https://doi.org/10.1159/..
 
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8

Galactose epimerase deficiency: lessons from the GalNet reg..:

Derks, Britt ; Demirbas, Didem ; Arantes, Rodrigo R....
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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9

Caregiver burden, and parents' perception of disease severi..:

Bösch, Florin ; Landolt, Markus A. ; Baumgartner, Matthias R....
Molecular Genetics and Metabolism Reports.  31 (2022)  - p. 100876 , 2022
Link: https://doi.org/10.1016/..
 
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10

Impact of the SARS‐CoV‐2 pandemic on the health of individu..:

Mütze, Ulrike ; Gleich, Florian ; Barić, Ivo...
Journal of Inherited Metabolic Disease.  46 (2022)  2 - p. 220-231 , 2022
Link: https://doi.org/10.1002/..
 
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11

Persistent effect of arimoclomol in patients with Niemann-P..:

Patterson, Marc ; Mengel, Eugen ; Da Rio, Rosalia M....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S94 , 2022
Link: https://doi.org/10.1016/..
 
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12

Correction to: Clinical disease progression and biomarkers ..:

Mengel, Eugen ; Bembi, Bruno ; del Toro, Mireia...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Untargeted plasma metabolomics identifies broad metabolic p..:

Mathis, Tamara ; Poms, Martin ; Köfeler, Harald...
Journal of Inherited Metabolic Disease.  45 (2021)  2 - p. 235-247 , 2021
Link: https://doi.org/10.1002/..
 
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14

Triheptanoin – Novel therapeutic approach for the ultra-rar..:

Laemmle, Alexander ; Steck, Andrea Lisa ; Schaller, André...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100814 , 2021
Link: https://doi.org/10.1016/..
 
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15

Efficacy and safety of arimoclomol in Niemann‐Pick disease ..:

Mengel, Eugen ; Patterson, Marc C. ; Da Riol, Rosalia M....
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1463-1480 , 2021
Link: https://doi.org/10.1002/..
 
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