Resultados de búsqueda - Matthias R. Baumgartner

Limitar resultados
  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 por Matthias R. Baumgartner

    Publicado 2000
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  2. 2
    Causes of and diagnostic approach to methylmalonic acidurias

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

    Publicado 2008
    Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  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 por D. Sean Froese, Brian Fowler, Matthias R. Baumgartner

    Publicado 2019
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  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 por Patrick Forny, D. Sean Froese, Terttu Suormala, Wyatt W. Yue, Matthias R. Baumgartner

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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 por Martin Stucki, David Coelho, Terttu Suormala, Patricie Burda, Brian Fowler, Matthias R. Baumgartner

    Publicado 2011
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  6. 6
    Quo vadis: the re‐definition of “inborn metabolic diseases”

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

    Publicado 2015
    Enlace del recurso Enlace del recurso
    Editorial
    Agregar a favoritos
    Guardado en:
  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 por Bernhard Schmitt, Matthias R. Baumgartner, Philippa B. Mills, Peter T. Clayton, Cornelis Jakobs, Elmar Keller, Gabriele Wohlrab

    Publicado 2010
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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> por Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer, Seraina Lutz, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner

    Publicado 2016
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  9. 9
    Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

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

    Publicado 2020
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  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 por Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R. Baumgartner, B. Merinero, Elisabetta Pasquini, Antònia Ribes, Henk J. Blom

    Publicado 2015
    Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  11. 11
    CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

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

    Publicado 2010
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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 por Patricie Paesold-Burda, Charlotte Maag, Heinz Troxler, François Foulquier, P. Kleinert, Sabine Schnabel, Matthias R. Baumgartner, Thierry Hennet

    Publicado 2009
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  13. 13
    The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

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

    Publicado 2001
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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 por David Coelho, Terttu Suormala, Martin Stucki, Jordan Lerner‐Ellis, David S. Rosenblatt, Robert F. Newbold, Matthias R. Baumgartner, Brian Fowler

    Publicado 2008
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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) por Alexander Laemmle, Renata C. Gallagher, Adrian Keogh, Tamar Stricker, Matthias Gautschi, Jean‐Marc Nuoffer, Matthias R. Baumgartner, Johannes Häberle

    Publicado 2016
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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 por Martina Huemer, Sabine Scholl‐Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R. Baumgartner, Daniela Karall

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  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 por Daniel Pichler, Matthias R. Baumgartner, Janine Kimpel, Annika Rössler, Lydia Riepler, Katie Bates, Verena Fleischer, Dorotheé von Laer, Wegene Borena, Reinhard Würzner

    Publicado 2021
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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... por Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R. Baumgartner, Stefan Kölker, Georg F. Hoffmann, Gwendolyn Gramer, Jürgen G. Okun

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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) por Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot, Terttu Suormala, Peter Burgard, Brian Fowler, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, E. R. Baumgartner

    Publicado 2007
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  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 por Raija L.P. Lindberg, Rudolf Martini, Matthias R. Baumgartner, Beat Erne, Jacques Borg, Jürgen Zielasek, K. Ricker, Andreas Steck, K. V. Toyka, Urs Meyer

    Publicado 1999
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:

Herramientas de búsqueda: