Ngā hua rapu - 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 mā Matthias R. Baumgartner

    I whakaputaina 2000
    Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Causes of and diagnostic approach to methylmalonic acidurias

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

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Revisão
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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 mā D. Sean Froese, Brian Fowler, Matthias R. Baumgartner

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Patrick Forny, D. Sean Froese, Terttu Suormala, Wyatt W. Yue, Matthias R. Baumgartner

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Martin Stucki, David Coelho, Terttu Suormala, Patricie Burda, Brian Fowler, Matthias R. Baumgartner

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Quo vadis: the re‐definition of “inborn metabolic diseases”

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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Editorial
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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 mā Bernhard Schmitt, Matthias R. Baumgartner, Philippa B. Mills, Peter T. Clayton, Cornelis Jakobs, Elmar Keller, Gabriele Wohlrab

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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> mā Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer, Seraina Lutz, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Bianca Dimitrov, Femke Molema, Monique Williams, Jessica Schmiesing, Chris Mühlhausen, Matthias R. Baumgartner, Anke Schumann, Stefan Kölker

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R. Baumgartner, B. Merinero, Elisabetta Pasquini, Antònia Ribes, Henk J. Blom

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Revisão
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  11. 11
    CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Patricie Paesold-Burda, Charlotte Maag, Heinz Troxler, François Foulquier, P. Kleinert, Sabine Schnabel, Matthias R. Baumgartner, Thierry Hennet

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Matthias R. Baumgartner, Shlomo Almashanu, Terttu Suormala, Cassandra Obie, Robert N. Cole, Seymour Packman, E. R. Baumgartner, David Valle

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā David Coelho, Terttu Suormala, Martin Stucki, Jordan Lerner‐Ellis, David S. Rosenblatt, Robert F. Newbold, Matthias R. Baumgartner, Brian Fowler

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā Alexander Laemmle, Renata C. Gallagher, Adrian Keogh, Tamar Stricker, Matthias Gautschi, Jean‐Marc Nuoffer, Matthias R. Baumgartner, Johannes Häberle

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Martina Huemer, Sabine Scholl‐Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R. Baumgartner, Daniela Karall

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Daniel Pichler, Matthias R. Baumgartner, Janine Kimpel, Annika Rössler, Lydia Riepler, Katie Bates, Verena Fleischer, Dorotheé von Laer, Wegene Borena, Reinhard Würzner

    I whakaputaina 2021
    Whiwhi kuputuhi katoa
    Artigo
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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... mā Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R. Baumgartner, Stefan Kölker, Georg F. Hoffmann, Gwendolyn Gramer, Jürgen G. Okun

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot, Terttu Suormala, Peter Burgard, Brian Fowler, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, E. R. Baumgartner

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Raija L.P. Lindberg, Rudolf Martini, Matthias R. Baumgartner, Beat Erne, Jacques Borg, Jürgen Zielasek, K. Ricker, Andreas Steck, K. V. Toyka, Urs Meyer

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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