All papers authored by Matthias Gautschi
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2024
Tatiana Bremova-Ertl 
,
Uma Ramaswami ,
Marion Brands ,
Tomas Foltan,
Matthias Gautschi ,
Paul Gissen ,
Francesca Gowing,
Andreas Hahn ,
Simon Jones,
Richard Kay,
Miriam Kolnikova ,
Laila Arash-Kaps,
Thorsten Marquardt ,
Eugen Mengel ,
Julien H. Park
and 7 other authors
,
Uma Ramaswami ,
Marion Brands ,
Tomas Foltan,
Matthias Gautschi ,
Paul Gissen ,
Francesca Gowing,
Andreas Hahn ,
Simon Jones,
Richard Kay,
Miriam Kolnikova ,
Laila Arash-Kaps,
Thorsten Marquardt ,
Eugen Mengel ,
Julien H. Park
and 7 other authors
Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C
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2023
Tatiana Bremova-Ertl ,
Jan Hofmann,
Janine Stucki,
Anja Vossenkaul,
Matthias Gautschi
,
Jan Hofmann,
Janine Stucki,
Anja Vossenkaul,
Matthias Gautschi
Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options
Download from doi.org
2022
Britt Derks,
Didem Demirbas,
Rodrigo R. Arantes,
Samantha Banford,
Alberto B. Burlina,
Analía Cabrera,
Ana Chiesa,
M. Luz Couce,
Carlo Dionisi-Vici,
Matthias Gautschi ,
Stephanie Grünewald,
Eva Morava,
Dorothea Möslinger,
Sabine Scholl-Bürgi,
Anastasia Skouma
and 4 other authors
,
Stephanie Grünewald,
Eva Morava,
Dorothea Möslinger,
Sabine Scholl-Bürgi,
Anastasia Skouma
and 4 other authors
Galactose epimerase deficiency: lessons from the GalNet registry
Download from link.springer.com
Eugen Mengel ,
Marc C. Patterson,
Christine í. Dali,
Rosalia M. Da Riol,
Mireia Del Toro,
Federica Deodato,
Matthias Gautschi ,
Stephanie Grunewald,
Sabine Grønborg,
Paul Harmatz,
Bénédicte Héron,
Esther M. Maier,
Agathe Roubertie,
Saikat Santra,
Anna Tylki‐Szymanska
and 9 other authors
Download from onlinelibrary.wiley.com
,
Marc C. Patterson,
Christine í. Dali,
Rosalia M. Da Riol,
Mireia Del Toro,
Federica Deodato,
Matthias Gautschi ,
Stephanie Grunewald,
Sabine Grønborg,
Paul Harmatz,
Bénédicte Héron,
Esther M. Maier,
Agathe Roubertie,
Saikat Santra,
Anna Tylki‐Szymanska
and 9 other authors
Download from onlinelibrary.wiley.com
Eugen Mengel ,
Bruno Bembi,
Mireia del Toro,
Federica Deodato,
Matthias Gautschi ,
Stephanie Grunewald,
Sabine Grønborg,
Bénédicte Héron,
Esther M. Maier,
Agathe Roubertie,
Saikat Santra,
Anna Tylki-Szymanska,
Simon Day,
Tara Symonds,
Stacie Hudgens
and 6 other authors
Download from link.springer.com
,
Bruno Bembi,
Mireia del Toro,
Federica Deodato,
Matthias Gautschi ,
Stephanie Grunewald,
Sabine Grønborg,
Bénédicte Héron,
Esther M. Maier,
Agathe Roubertie,
Saikat Santra,
Anna Tylki-Szymanska,
Simon Day,
Tara Symonds,
Stacie Hudgens
and 6 other authors
Download from link.springer.com
J. Yogarajah,
C. Gouveia,
J. Iype,
S. Häfliger,
A. Schaller,
J. M. Nuoffer,
M. Fux,
M. Gautschi
Download from onlinelibrary.wiley.com
Download from onlinelibrary.wiley.com
2020
Eugen Mengel ,
Bruno Bembi,
Mireia del Toro,
Federica Deodato,
Matthias Gautschi ,
Stephanie Grunewald,
Sabine Grønborg,
Bénédicte Héron,
Esther M. Maier,
Agathe Roubertie,
Saikat Santra,
Anna Tylki-Szymanska,
Simon Day,
Tara Symonds,
Stacie Hudgens
and 6 other authors
Download from link.springer.com
,
Bruno Bembi,
Mireia del Toro,
Federica Deodato,
Matthias Gautschi ,
Stephanie Grunewald,
Sabine Grønborg,
Bénédicte Héron,
Esther M. Maier,
Agathe Roubertie,
Saikat Santra,
Anna Tylki-Szymanska,
Simon Day,
Tara Symonds,
Stacie Hudgens
and 6 other authors
Download from link.springer.com
M. Estela Rubio-Gozalbo ,
Britt Derks,
Anibh Martin Das,
Uta Meyer,
Dorothea Möslinger,
M. Luz Couce,
Aurélie Empain,
Can Ficicioglu,
Natalia Juliá Palacios,
Mariela M. De Los Santos De Pelegrin,
Isabel A. Rivera,
Sabine Scholl-Bürgi,
Annet M. Bosch,
David Cassiman,
Didem Demirbas
and 9 other authors
,
Britt Derks,
Anibh Martin Das,
Uta Meyer,
Dorothea Möslinger,
M. Luz Couce,
Aurélie Empain,
Can Ficicioglu,
Natalia Juliá Palacios,
Mariela M. De Los Santos De Pelegrin,
Isabel A. Rivera,
Sabine Scholl-Bürgi,
Annet M. Bosch,
David Cassiman,
Didem Demirbas
and 9 other authors
Galactokinase deficiency: lessons from the GalNet registry
Download from www.nature.com
Willemijn J. van Rijt,
Emmalie A. Jager,
Derk P. Allersma,
A. Çiğdem Aktuğlu Zeybek,
Kaustuv Bhattacharya ,
François-Guillaume Debray,
Carolyn J. Ellaway,
Matthias Gautschi ,
Michael T. Geraghty,
David Gil-Ortega,
Austin A. Larson,
Francesca Moore,
Eva Morava,
Andrew A. Morris,
Kimihiko Oishi
and 9 other authors
Download from www.nature.com
,
François-Guillaume Debray,
Carolyn J. Ellaway,
Matthias Gautschi ,
Michael T. Geraghty,
David Gil-Ortega,
Austin A. Larson,
Francesca Moore,
Eva Morava,
Andrew A. Morris,
Kimihiko Oishi
and 9 other authors
Download from www.nature.com
2019
M. E. Rubio-Gozalbo ,
M. Haskovic,
S. Grunewald,
J. Häberle,
M. Hochuli,
A. Hubert,
H. H. Huidekoper,
P. Janeiro,
J. Kotzka,
I. Knerr,
P. Labrune,
Y. E. Landau,
J. G. Langendonk,
D. Möslinger,
D. Müller-Wieland
and 28 other authors
,
M. Haskovic,
S. Grunewald,
J. Häberle,
M. Hochuli,
A. Hubert,
H. H. Huidekoper,
P. Janeiro,
J. Kotzka,
I. Knerr,
P. Labrune,
Y. E. Landau,
J. G. Langendonk,
D. Möslinger,
D. Müller-Wieland
and 28 other authors
The natural history of classic galactosemia: lessons from the GalNet registry
Download from link.springer.com
2018
Thorsten Hornemann ,
Irina Alecu,
Niels Hagenbuch,
Assem Zhakupova,
Alessio Cremonesi,
Matthias Gautschi ,
Hans H. Jung,
Fabian Meienberg,
Stefan Bilz ,
Emanuel Christ,
Matthias R. Baumgartner,
Michel Hochuli
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,
Irina Alecu,
Niels Hagenbuch,
Assem Zhakupova,
Alessio Cremonesi,
Matthias Gautschi ,
Hans H. Jung,
Fabian Meienberg,
Stefan Bilz ,
Emanuel Christ,
Matthias R. Baumgartner,
Michel Hochuli
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Britt van Erven,
Gerard T. Berry,
David Cassiman,
Geraldine Connolly,
Maria Forga,
Matthias Gautschi ,
Cynthia S. Gubbels,
Carla E. M. Hollak,
Mirian C. Janssen ,
Ina Knerr,
Philippe Labrune,
Janneke G. Langendonk,
Katrin Õunap,
Abel Thijs,
Rein Vos
and 2 other authors
,
Cynthia S. Gubbels,
Carla E. M. Hollak,
Mirian C. Janssen ,
Ina Knerr,
Philippe Labrune,
Janneke G. Langendonk,
Katrin Õunap,
Abel Thijs,
Rein Vos
and 2 other authors
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
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Lindsey Welling,
Susan E. Waisbren,
Kevin M. Antshel,
Hugh-Owen Colhoun,
Matthias Gautschi ,
Stephanie Grünewald,
Rebecca Holman,
Johanna H. van der Lee,
Eileen P. Treacy,
Annet M. Bosch
Download from europepmc.org
,
Stephanie Grünewald,
Rebecca Holman,
Johanna H. van der Lee,
Eileen P. Treacy,
Annet M. Bosch
Download from europepmc.org
2016
Johanna H. van der Lee,
Katrin Õunap,
Lindsey Welling,
Jessica B. Spencer,
Inge Timmers,
Eileen P. Treacy,
Sandra C. Van Calcar,
Bernstein Le,
Susan E. Waisbren,
Laurie E. Bernstein,
Berry Gt,
Gerard T. Berry,
Burlina Ab,
Alberto B. Burlina,
François Eyskens
and 14 other authors
Download from link.springer.com
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