Skip to main content

18 Result(s)

within C. Bachmann Remove this filter Biochemistry, general Remove this filter Pediatrics Remove this filter

and

  1. No Access

    Article

    Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency

    A child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency suffered from fasting hypoglycaemia and impaired ketone body formation.

    Dr B. François, C. Bachmann, R. B. H. Schutgens in Journal of Inherited Metabolic Disease (1981)

  2. No Access

    Article

    Incidence of disorders tested by systematic screening: Confidence limits and comparison of programmes

    Using the data from screening done in Switzerland since 1965, we showed that the probability of finding cases with increased phenylalanine or leucine concentrations is compatible with a Poisson distribution. I...

    C. Bachmann, J. -P. Colombo in Journal of Inherited Metabolic Disease (1982)

  3. 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)

  4. No Access

    Article

    Biotinidase deficiency: metabolites in CSF

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

  5. No Access

    Article

    Atypical non-ketotic hyperglycinaemia

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

  6. No Access

    Article

    Ornithine transcarbamylase variant in a male patient

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

  7. No Access

    Article

    β-Ketothiolase deficiency with favourable evolution

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

  8. 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)

  9. 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)

  10. No Access

    Article

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

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

  11. No Access

    Chapter

    Urea Cycle Disorders

    Patients with urea cycle disorders can present with symptoms from birth to adulthood, depending on the degree of enzyme defect and nitrogen load. Levels of ammonia in the blood should be determined in any newb...

    C. Bachmann in Inborn Metabolic Diseases (1990)

  12. 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)

  13. 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)

  14. 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)

  15. 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)

  16. 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)

  17. 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)

  18. 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)