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  1. Article

    Open Access

    Ogilvie syndrome after cesarean section

    V. Rothfuss, C. Reisenauer, C. Bachmann in Archives of Gynecology and Obstetrics (2024)

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  2. No Access

    Article

    Increased NO production in lysinuric protein intolerance

    Lysinuric protein intolerance (LPI) is a disorder of dibasic amino acid transport secondary to mutation of the SLC7A7 gene characterized by renal failure, pulmonary alveolar proteinosis, lupus-like autoimmune sym...

    L. Mannucci, F. Emma, M. Markert, C. Bachmann… in Journal of Inherited Metabolic Disease (2005)

  3. No Access

    Article

    Satellite meeting on Advances in Inherited Urea Cycle Disorders. Recent results – new questions

    C. Bachmann in Journal of Inherited Metabolic Disease (1998)

  4. No Access

    Article

    Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome

    D. Skladal, W. Sperl, H. Henry, C. Bachmann in Journal of Inherited Metabolic Disease (1996)

  5. No Access

    Article

    3-Hydroxyisobutyric aciduria with a mild clinical course

    O. Boulat, N. Benador, E. Girardin, C. Bachmann in Journal of Inherited Metabolic Disease (1995)

  6. No Access

    Article

    Ornithine carbamoyl transferase deficiency: Findings, models and problems

    The initial clinical symptoms of ornithine carbamoyl transferase deficiency depend on the age of onset. Respiratory distress on the first day of life does not allow exclusion of OCT deficiency in the individua...

    C. Bachmann in Journal of Inherited Metabolic Disease (1992)

  7. 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)

  8. No Access

    Article

    Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis

    The use of restriction fragment length polymorphism studies for prenatal exclusion of OTC deficiency in a carrier mother is reported.

    S. Liechti, C. Dionisi Vici, C. Bachmann… in Journal of Inherited Metabolic Disease (1990)

  9. No Access

    Article

    3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency

    E. Ploechl, C. Bachmann, J. P. Colombo… in Journal of Inherited Metabolic Disease (1989)

  10. No Access

    Article

    Laryngeal stridor as a leading symptom in a biotinidase-deficient patient

    C. Dionisi-Vici, C. Bachmann, M. C. Graziani… in Journal of Inherited Metabolic Disease (1988)

  11. No Access

    Article

    N-acetylglutamate synthetase deficiency, a second patient

    A second patient withN-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after dea...

    C. Bachmann, M. Brandis, E. Weissenbarth-Riedel… in Journal of Inherited Metabolic Disease (1988)

  12. No Access

    Article

    β-Ketothiolase deficiency with favourable evolution

    G. Sabetta, C. Bachmann, O. Giardini, M. Castro… in Journal of Inherited Metabolic Disease (1987)

  13. No Access

    Article

    Ornithine transcarbamylase variant in a male patient

    S. Stöckler, F. Großschädl, C. Bachmann… in Journal of Inherited Metabolic Disease (1987)

  14. No Access

    Article

    Enzymology of human myometrium: Variations related to the hormonal milieu

    The activities of various enzymes involved in glycolysis, tricarboxylic acid cycle and fatty acid oxidation were assayed in human myometrium. A gradient of the activities from fundal to cervical myometrium was...

    U. Herrmann Jr., P. Degiampietro, E. Peheim, C. Bachmann in Archives of gynecology (1987)

  15. No Access

    Article

    Atypical non-ketotic hyperglycinaemia

    C. Borrone, C. Bachmann, M. Di Rocco, K. Tada… in Journal of Inherited Metabolic Disease (1986)

  16. No Access

    Article

    20. In-vitro-Prüfung des plazentaren Transfers von Medikamenten Beispiel: Acyclovir

    Am Modell der In-vitro-Perfusion des isolierten Kotyledo der menschlichen Plazenta am Termin wurde der Transfer von Acyclovir, einem gegen Herpes-simplex-Virus wirksamen Guaninderivat, geprüft. Die Plazentapas...

    U. Herrmann jr., P. Degiampietro, E. Peheim, C. Bachmann in Archives of gynecology (1986)

  17. No Access

    Article

    Biotinidase deficiency: metabolites in CSF

    A. Fois, M. Cioni, P. Balestri, G. Bartalini… in Journal of Inherited Metabolic Disease (1986)

  18. No Access

    Article

    Activities in the placenta and fetal membranes of enzymes involved in energy metabolism

    The placenta and the fetal membranes differ in their energy dependent functions and in their blood supply. In a search for quantitative differences in the expression of enzymes involved in energy metabolism in...

    U. Herrmann Jr., P. Degiampietro, E. Metzger, C. Bachmann… in Archives of gynecology (1985)

  19. No Access

    Article

    Biotinidase deficiency: Clinical course and biochemical findings

    The biotin responsive late-onset multiple carboxylase deficiency (McKusick 25327) has recently been shown to be due to biotinidase deficiency (EC 3.5.1.12; Wolfet al., 1983a). This affects the regeneration of bio...

    G. Schubiger, U. Caflisch, R. Baumgartner… in Journal of Inherited Metabolic Disease (1984)

  20. No Access

    Article

    Serum lipoproteins in patients with mild renal disease treated with the diuretic muzolimine

    Patients with renal functional impairment are prone to develop hypertension and hyperlipidemia, and both abnormalities tend to occur already at an early stage of kidney disease. In 18 patients with mild renal ...

    H. Schiffl, Prof. P. Weidmann MD, R. Mordasini, K. Boehringer… in Klinische Wochenschrift (1982)

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