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Matthias Baumgartner

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Molecular Genetics and Metabolism|November 18, 2005
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot studyBetina Fiege, Luisa Bonafé, Diana Ballhausen, et al.
Metabolism: Clinical and Experimental|May 28, 2004
Propionic acidemia: unusual course with late onset and fatal outcomeThomas Lücke, Celia Pérez-Cerdá, Matthias Baumgartner, et al.
DNA and Cell Biology|January 3, 2020
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's SyndromeAlessandro Marazza, Carmela Galli, Elisa Fasana, et al.
Stem Cell Research|November 4, 2019
Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH diseaseSilvin Lito, Patricie Burda, Matthias Baumgartner, et al.
Journal of Inherited Metabolic Disease|April 14, 2011
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalitiesRita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, et al.
The Journal of Infectious Diseases|June 4, 2021
Marked Increase in Avidity of SARS-CoV-2 Antibodies 7-8 Months After Infection Is Not Diminished in Old AgeDaniel Pichler, Matthias Baumgartner, Janine Kimpel, et al.
Journal of the Neurological Sciences|December 17, 2017
Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiencyPaulus S Rommer, Johannes Zschocke, Brian Fowler, et al.
Orphanet Journal of Rare Diseases|June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationMarianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
Molecular Genetics and Metabolism|November 10, 2016
Autism in patients with propionic acidemiaPeter Witters, Eric Debbold, Kea Crivelly, et al.
Molecular Genetics and Metabolism|June 24, 2018
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduriaNoémie Remacle, Patrick Forny, Hong-Phuc Cudré-Cung, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|November 18, 2005
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot studyBetina Fiege, Luisa Bonafé, Diana Ballhausen, et al.
Metabolism: Clinical and Experimental|May 28, 2004
Propionic acidemia: unusual course with late onset and fatal outcomeThomas Lücke, Celia Pérez-Cerdá, Matthias Baumgartner, et al.
DNA and Cell Biology|January 3, 2020
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's SyndromeAlessandro Marazza, Carmela Galli, Elisa Fasana, et al.
Stem Cell Research|November 4, 2019
Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH diseaseSilvin Lito, Patricie Burda, Matthias Baumgartner, et al.
Journal of Inherited Metabolic Disease|April 14, 2011
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalitiesRita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, et al.
The Journal of Infectious Diseases|June 4, 2021
Marked Increase in Avidity of SARS-CoV-2 Antibodies 7-8 Months After Infection Is Not Diminished in Old AgeDaniel Pichler, Matthias Baumgartner, Janine Kimpel, et al.
Journal of the Neurological Sciences|December 17, 2017
Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiencyPaulus S Rommer, Johannes Zschocke, Brian Fowler, et al.
Orphanet Journal of Rare Diseases|June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationMarianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
Molecular Genetics and Metabolism|November 10, 2016
Autism in patients with propionic acidemiaPeter Witters, Eric Debbold, Kea Crivelly, et al.
Molecular Genetics and Metabolism|June 24, 2018
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduriaNoémie Remacle, Patrick Forny, Hong-Phuc Cudré-Cung, et al.
Pageof 4