Hasil Pencarian - Matthias R Baumgartner

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  1. 1
    A systematic review of moral reasons on orphan drug reimbursement

    A systematic review of moral reasons on orphan drug reimbursement oleh Bettina M. Zimmermann, Johanna Eichinger, Matthias R. Baumgartner

    Diterbitkan 2021-06-01
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  2. 2
    Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland

    Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland oleh Susanne Wehrli, Susanne Wehrli, Susanne Wehrli, Andrew A. Dwyer, Andrew A. Dwyer, Matthias R. Baumgartner, Matthias R. Baumgartner, Carmen Lehmann, Markus A. Landolt, Markus A. Landolt, Markus A. Landolt

    Diterbitkan 2024-09-01
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  3. 3
    Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

    Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus oleh Florin Bösch, Nina A. Zeltner, Matthias R. Baumgartner, Martina Huemer, Markus A. Landolt

    Diterbitkan 2022-01-01
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  4. 4
    Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

    Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria oleh Marie Lucienne, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R. Baumgartner, D. Sean Froese

    Diterbitkan 2021-03-01
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  5. 5
    Successful intrauterine treatment of a patient with cobalamin C defect

    Successful intrauterine treatment of a patient with cobalamin C defect oleh Friedrich K. Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Martina Huemer, Terttu Suomala, Brian Fowler, Dorothea Haas, Matthias R. Baumgartner

    Diterbitkan 2016-03-01
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  6. 6
    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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  7. 7
    Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

    Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression oleh Alberto B. Burlina, Alessandro P. Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R. Baumgartner, Vincenza Gragnaniello

    Diterbitkan 2024-03-01
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  8. 8
    Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.

    Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic... oleh Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun

    Diterbitkan 2017-01-01
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  9. 9
    Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

    Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition oleh D. Sean Froese, Jolanta Kopec, Elzbieta Rembeza, Gustavo Arruda Bezerra, Anselm Erich Oberholzer, Terttu Suormala, Seraina Lutz, Rod Chalk, Oktawia Borkowska, Matthias R. Baumgartner, Wyatt W. Yue

    Diterbitkan 2018-06-01
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  10. 10
    The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

    The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear oleh Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R. Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B. Wortmann, Vassiliki Konstantopoulou, Martina Huemer

    Diterbitkan 2024-06-01
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  11. 11
    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE oleh James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

    Diterbitkan 2010-02-01
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  12. 12
    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

    RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE oleh James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

    Diterbitkan 2010-02-01
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  13. 13
    Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

    Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant oleh Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran

    Diterbitkan 2019-06-01
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  14. 14
    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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  15. 15
    Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

    Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents oleh Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner, Martina Huemer

    Diterbitkan 2019-11-01
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  16. 16
    Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

    Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency oleh Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst

    Diterbitkan 2020-02-01
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  17. 17
    Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

    Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency oleh Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst

    Diterbitkan 2020-04-01
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  18. 18
    Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

    Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study oleh E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy

    Diterbitkan 2021-10-01
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  19. 19
    The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

    The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study oleh E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy

    Diterbitkan 2021-09-01
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  20. 20
    Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

    Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients oleh Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt

    Diterbitkan 2018-02-01
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