Hasil Pencarian - Matthias Gautschi

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  1. 1
    Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

    Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options oleh Tatiana Bremova-Ertl, Jan Hofmann, Janine Stucki, Anja Vossenkaul, Matthias Gautschi

    Diterbitkan 2023-09-01
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  2. 2
    Integration of adult patients with phenylketonuria into professional life: Long-term follow-up of 27 patients in a single centre in Switzerland

    Integration of adult patients with phenylketonuria into professional life: Long-term follow-up of 27 patients in a single centre in Switzerland oleh Sabrina Pers, Matthias Gautschi, Jean-Marc Nuoffer, Hanspeter Schwarz, Emanuel Christ

    Diterbitkan 2014-12-01
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  3. 3
    Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

    Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia oleh Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer, Matthias Gautschi

    Diterbitkan 2019-02-01
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  4. 4
    Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

    Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). oleh Alexander Laemmle, Renata C Gallagher, Adrian Keogh, Tamar Stricker, Matthias Gautschi, Jean-Marc Nuoffer, Matthias R Baumgartner, Johannes Häberle

    Diterbitkan 2016-01-01
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  5. 5
    Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

    Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency oleh Alexander Laemmle, Andrea Lisa Steck, André Schaller, Sandra Kurth, Eveline Perret Hoigné, Andrea Deborah Felser, Nedelina Slavova, Claudia Salvisberg, Mariana Atencio, Fanny Mochel, Jean-Marc Nuoffer, Matthias Gautschi

    Diterbitkan 2021-12-01
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  6. 6
    Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

    Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake oleh Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio‐Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova

    Diterbitkan 2021-09-01
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  7. 7
    Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

    Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism oleh Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer

    Diterbitkan 2022-06-01
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  8. 8
    Galactose epimerase deficiency: lessons from the GalNet registry

    Galactose epimerase deficiency: lessons from the GalNet registry oleh 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, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo

    Diterbitkan 2022-09-01
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  9. 9
    Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

    Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study oleh 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, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali

    Diterbitkan 2021-06-01
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  10. 10
    Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Brain function in classic galactosemia, a galactosemia network (GalNet) members review oleh Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

    Diterbitkan 2024-02-01
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