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  1. No Access

    Chapter

    TMEM165 Deficiency: Postnatal Changes in Glycosylation

    Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic...

    S. Schulte Althoff, M. Grüneberg, J. Reunert, J. H. Park… in JIMD Reports, Volume 26 (2016)

  2. No Access

    Article

    Membrane translocation of glutaric acid and its derivatives

    The neurodegenerative disorder glutaric aciduria type I (GA I) is characterized by increased levels of cytotoxic metabolites such as glutaric acid (GA) and 3-hydroxyglutaric (3OHGA). The present report summari...

    C. Mühlhausen, B. C. Burckhardt, Y. Hagos… in Journal of Inherited Metabolic Disease (2008)

  3. No Access

    Article

    Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

    Despite highly increased blood lipids, patients with glycogen storage disease type Ia (GSD Ia) do not develop premature vascular complications. Since this could be due to changes of coagulation factors, coagul...

    C. MÜHlhausen, R. Schneppenheim, U. Budde… in Journal of Inherited Metabolic Disease (2005)

  4. No Access

    Article

    Animal models for glutaryl-CoA dehydrogenase deficiency

    Summary: In vitro studies suggest that excitotoxic cell damage is an underlying mechanism for the acute striatal damage in glutaryl-CoA dehydrogenase (GCDH) deficiency. It is believed to result from an imbalance...

    D. M. Koeller, S. Sauer, M. Wajner… in Journal of Inherited Metabolic Disease (2004)

  5. No Access

    Article

    Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

    Summary: This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic tre...

    C. Mühlhausen, G. F. Hoffmann, K. A. Strauss… in Journal of Inherited Metabolic Disease (2004)

  6. No Access

    Article

    Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I

    Summary: The metabolic hallmark of glutaric aciduria type I (GA I) isthe deficiency of glutaryl-CoA dehydrogenase (GCDH) with subsequent accumulation of glutaric acid, 3-hydroxglutaric acid (3-OH-GA) and glutaco...

    C. Mühlhausen, S. Ergün, K. A. Strauss… in Journal of Inherited Metabolic Disease (2004)

  7. No Access

    Article

    Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I

    We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.

    C. Mühlhausen, E. Christensen, M. Schwartz… in Journal of Inherited Metabolic Disease (2003)

  8. No Access

    Article

    Die neue Lifestyle-Medizin

    Das paternalistische Verhältnis zwischen Arzt und Patient unterliegt einem gravierenden Wertewandel. Kranke sind immer weniger bereit, Leib und Leben in die Hände eines weißbeschürzten Halbgotts zu legen.Gesun...

    C. Mühlhausen in Der Urologe B (2002)