檢索結果 - Baumgartner, Matthias

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

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Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report 由 Heiber, Stefanie, Zulewski, Henryk, Zaugg, Marianne, Kiss, Caroline, Baumgartner, Matthias

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Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY 由 Stucki, Martin, Suormala, Terttu, Fowler, Brian, Valle, David, Baumgartner, Matthias R.

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Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review 由 Zeltner, Nina A, Huemer, Martina, Baumgartner, Matthias R, Landolt, Markus A

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Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) 由 Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

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Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency 由 Forny, Patrick, Froese, D. Sean, Suormala, Terttu, Yue, Wyatt W., Baumgartner, Matthias R.

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

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Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency 由 Schlotawa, Lars, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Schmid, Regula, Schmidt, Bernhard, Dierks, Thomas, Gärtner, Jutta

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MON-189 Glycemic Control and the Presence of Complications in Glycogen Storage Disease Type I: Results from the Swiss Registry 由 Kaiser, Nathalie, Gautschi, Matthias, Bosanska, Lenka, Meienberg, Fabian, Baumgartner, Matthias, Spinas, Giatgen, Hochuli, Michel

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

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Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria 由 Forny, Patrick, Plessl, Tanja, Frei, Caroline, Bürer, Celine, Froese, D. Sean, Baumgartner, Matthias R.

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Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I 由 Mathis, Tamara, Poms, Martin, Köfeler, Harald, Gautschi, Matthias, Plecko, Barbara, Baumgartner, Matthias R., Hochuli, Michel

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Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta 由 Lindert, Uschi, Kraenzlin, Marius, Campos-Xavier, Ana Belinda, Baumgartner, Matthias R., Bonafé, Luisa, Giunta, Cecilia, Rohrbach, Marianne

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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. 由 Wongkittichote, Parith, Cunningham, Gary, Summar, Marshall L., Pumbo, Elena, Forny, Patrick, Baumgartner, Matthias R., Chapman, Kimberly A.

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Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors 由 Lito, Silvin, Sidibe, Adama, Ilmjarv, Sten, Burda, Patricie, Baumgartner, Matthias, Wehrle-Haller, Bernhard, Krause, Karl-Heinz, Marteyn, Antoine

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

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One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland 由 Rueegg, Corina S, Kuehni, Claudia E, Gallati, Sabina, Baumgartner, Matthias, Torresani, Toni, Barben on behalf of the Swiss CF Screening Task Force, Juerg

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

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

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

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