Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

por Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Publicado 2013

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

por Grünert, Sarah C, Wendel, Udo, Lindner, Martin, Leichsenring, Michael, Schwab, K Otfried, Vockley, Jerry, Lehnert, Willy, Ensenauer, Regina
Publicado 2012

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino...

por Grünert, Sarah C, Brichta, Corinna M, Krebs, Andreas, Clement, Hans-Willi, Rauh, Reinhold, Fleischhaker, Christian, Hennighausen, Klaus, Sass, Jörn Oliver, Schwab, K Otfried
Publicado 2013

Prevalence of type 1 and type 2 diabetes in children and adolescents in Germany from 2002 to 2020: A study based on electronic health record data from the DPV registry

por Stahl‐Pehe, Anna, Kamrath, Clemens, Prinz, Nicole, Kapellen, Thomas, Menzel, Ulrike, Kordonouri, Olga, Schwab, K. Otfried, Bechtold‐Dalla Pozza, Susanne, Rosenbauer, Joachim, Holl, Reinhard W.
Publicado 2022

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

por Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R
Publicado 2012

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extra-oral halitosis

por Pol, Arjan, Renkema, G. Herma, Tangerman, Albert, Winkel, Edwin G., Engelke, Udo F., de Brouwer, Arjan P. M., Lloyd, Kent C., Araiza, Renee S., van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Elberink, Marijn Oude, Gilissen, Christian, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J. Silvia, Op den Camp, Huub J.M., Wevers, Ron A.
Publicado 2017