Resultats de la cerca - Matthias R. Baumgartner

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  1. 1
    Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta1-pyrroline-5-carboxylate synthase

    Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta1-pyrroline-5-carboxylate synthase per Matthias R. Baumgartner

    Publicat 2000
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  2. 2
    Causes of and diagnostic approach to methylmalonic acidurias

    Causes of and diagnostic approach to methylmalonic acidurias per Brian Fowler, James V. Leonard, Matthias R. Baumgartner

    Publicat 2008
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  3. 3
    Vitamin B<sub>12</sub>, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation

    Vitamin B<sub>12</sub>, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation per D. Sean Froese, Brian Fowler, Matthias R. Baumgartner

    Publicat 2019
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  4. 4
    Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐ <scp>C</scp> o <scp>A</scp> Mutase ( <scp>MUT</scp> ) Deficiency

    Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐ <scp>C</scp> o <scp>A</scp> Mutase ( <scp>MUT</scp> ) Deficiency per Patrick Forny, D. Sean Froese, Terttu Suormala, Wyatt W. Yue, Matthias R. Baumgartner

    Publicat 2014
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  5. 5
    Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

    Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism per Martin Stucki, David Coelho, Terttu Suormala, Patricie Burda, Brian Fowler, Matthias R. Baumgartner

    Publicat 2011
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  6. 6
    Quo vadis: the re‐definition of “inborn metabolic diseases”

    Quo vadis: the re‐definition of “inborn metabolic diseases” per Éva Morava, Shamima Rahman, Verena Peters, Matthias R. Baumgartner, Marc C. Patterson, Johannes Zschocke

    Publicat 2015
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  7. 7
    Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency

    Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency per Bernhard Schmitt, Matthias R. Baumgartner, Philippa B. Mills, Peter T. Clayton, Cornelis Jakobs, Elmar Keller, Gabriele Wohlrab

    Publicat 2010
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  8. 8
    Molecular Genetic Characterization of 151<i>Mut</i>-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in<i>MUT</i>

    Molecular Genetic Characterization of 151<i>Mut</i>-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in<i>MUT</i> per Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer, Seraina Lutz, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner

    Publicat 2016
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  9. 9
    Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

    Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise per Bianca Dimitrov, Femke Molema, Monique Williams, Jessica Schmiesing, Chris Mühlhausen, Matthias R. Baumgartner, Anke Schumann, Stefan Kölker

    Publicat 2020
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  10. 10
    Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

    Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines per Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R. Baumgartner, B. Merinero, Elisabetta Pasquini, Antònia Ribes, Henk J. Blom

    Publicat 2015
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  11. 11
    CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

    CRIM‐negative infantile Pompe disease: 42‐month treatment outcome per Marianne Rohrbach, Andrea Klein, Alice Köhli‐Wiesner, Dorothe Veraguth, Ianina Scheer, Christian Balmer, Roger Lauener, Matthias R. Baumgartner

    Publicat 2010
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  12. 12
    Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

    Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation per Patricie Paesold-Burda, Charlotte Maag, Heinz Troxler, François Foulquier, P. Kleinert, Sabine Schnabel, Matthias R. Baumgartner, Thierry Hennet

    Publicat 2009
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  13. 13
    The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

    The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency per Matthias R. Baumgartner, Shlomo Almashanu, Terttu Suormala, Cassandra Obie, Robert N. Cole, Seymour Packman, E. R. Baumgartner, David Valle

    Publicat 2001
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  14. 14
    Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>Metabolism

    Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>Metabolism per David Coelho, Terttu Suormala, Martin Stucki, Jordan Lerner‐Ellis, David S. Rosenblatt, Robert F. Newbold, Matthias R. Baumgartner, Brian Fowler

    Publicat 2008
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  15. 15
    Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

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

    Publicat 2016
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  16. 16
    Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

    Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy per Martina Huemer, Sabine Scholl‐Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R. Baumgartner, Daniela Karall

    Publicat 2014
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  17. 17
    Marked Increase in Avidity of SARS-CoV-2 Antibodies 7–8 Months After Infection Is Not Diminished in Old Age

    Marked Increase in Avidity of SARS-CoV-2 Antibodies 7–8 Months After Infection Is Not Diminished in Old Age per Daniel Pichler, Matthias R. Baumgartner, Janine Kimpel, Annika Rössler, Lydia Riepler, Katie Bates, Verena Fleischer, Dorotheé von Laer, Wegene Borena, Reinhard Würzner

    Publicat 2021
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  18. 18
    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... per Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R. Baumgartner, Stefan Kölker, Georg F. Hoffmann, Gwendolyn Gramer, Jürgen G. Okun

    Publicat 2017
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  19. 19
    Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

    Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB) per Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot, Terttu Suormala, Peter Burgard, Brian Fowler, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, E. R. Baumgartner

    Publicat 2007
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  20. 20
    Motor neuropathy in porphobilinogen deaminase–deficient mice imitates the peripheral neuropathy of human acute porphyria

    Motor neuropathy in porphobilinogen deaminase–deficient mice imitates the peripheral neuropathy of human acute porphyria per Raija L.P. Lindberg, Rudolf Martini, Matthias R. Baumgartner, Beat Erne, Jacques Borg, Jürgen Zielasek, K. Ricker, Andreas Steck, K. V. Toyka, Urs Meyer

    Publicat 1999
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