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  1. No Access

    Article

    Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate

    We report on a now 13-year-old girl, who presented with recurrent episodes of vomiting, psychotic behaviour and confusion during puberty until the diagnosis of partial N-acetylglutamate synthetase deficiency ...

    B. Plecko, W. Erwa, B. Wermuth in European Journal of Pediatrics (1998)

  2. No Access

    Article

    Diagnose und Behandlung des Ornithintranscarbamylase(OTC)-Mangels

    E. Mönch, G. F. Hoffmann, H. Przyrembel, J.-P. Colombo… in Monatsschrift Kinderheilkunde (1998)

  3. No Access

    Article

    Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity

    M. Staudt, B. Wermuth, P. Freisinger, A. Hässler… in Journal of Inherited Metabolic Disease (1998)

  4. No Access

    Article

    N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

    J. Hinnie, J. P. Colombo, B. Wermuth… in Journal of Inherited Metabolic Disease (1997)

  5. No Access

    Article

    Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

    Ornithine transcarbamylase deficiency shows X-linked inheritance with partial dominant expression in carrier females. We studied a girl with intermittent severe orotic aciduria and mild hyperammonaemia despite...

    S. Vella, F. Steiner, V. Schlumbom, R. Zurbrügg… in Journal of Inherited Metabolic Disease (1997)

  6. No Access

    Article

    Diskrete neurologische Befunde als Erstmanifestation eines Ornithintranscarbamylase (OTC)-Defekts

    F. K. Trefz, H. C. Schneider, G. Frauendienst-Egger… in Monatsschrift Kinderheilkunde (1997)

  7. No Access

    Article

    Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of fatty acid metabolism and typically presents in early childhood as potentially fatal hypoketotic, hypoglycaemic cr...

    J. M. Penzien, G. Molz, U. N. Wiesmann, J. -P. Colombo… in European Journal of Pediatrics (1994)

  8. No Access

    Article

    Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

    The son of Kurdish, consanguineous parents (cousin marriage) presented from the first day of life with inititally focal and later generalized attacks of epileptic seizures and a severe generalized muscular hyp...

    C. Bannwart, B. Wermuth, R. Baumgartner… in Journal of Inherited Metabolic Disease (1992)

  9. No Access

    Article

    PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders

    A. B. Burlina, C. Bachmann, B. Wermuth… in Journal of Inherited Metabolic Disease (1992)

  10. No Access

    Chapter

    Kinetic Studies on NADPH-Linked Aldehyde Reductase from Human Liver

    The mechanism of D-glucuronate reduction by human liver NADPH-dependent aldehyde reductase was investigated. At pH 7.4 the Km values for NADPH, NADP+, D-glucuronate and L-gulonate were 2.2 μM, 6 μM, 3.2 mM and 6 ...

    B. Wermuth, J.-P. von Wartburg in Alcohol and Aldehyde Metabolizing Systems-IV (1980)

  11. No Access

    Article

    Stereospecificity of hydrogen transfer of aldehyde reductase

    Aldehyde reductase from human liver catalyzes the hydrogen transfer from the pro-4R position on the dihydronicotinamide ring of the coenzyme to there face of the carbonyl carbon atom of the substrate.

    B. Wermuth, J. D. B. Münch, J. P. von Wartburg in Experientia (1979)