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  1. Article

    Quantitative determination of aldehydes and ketones in metabolic disorders

    The excretion of ketones other than acetone has been described in a few reports of patients with the ketotic hyperglycinemia syndrome. Our unexpected finding of butanone, 2-and 3-pentanone in the urine of Gomp...

    C Bachmann, R Baumgartner, H Wick in Pediatric Research (1974)

  2. Article

    Methylmalonic acidemia (MMA):Enzymatic studies in 5 non-related patients

    MMA may be caused by at least three different enzyme defects: l)Defect of methylmalonyl-CoA(MMCoA)mutase-apoenzyme; 2)Defective metabolism or transport of the coenzyme of MMCoA mutase, 5'-deoxyadenosylcobalami...

    R Baumgartner, C Bachmann, G Stalder in Pediatric Research (1974)

  3. Article

    γ-Glutamyltranspeptidase in the Rat Liver after Portacaval Shunt

    Extract: γ-Glutamyltranspeptidase (GGTP) activity was studied in livers of rats submitted to an end-to-side portacaval shunt (PCS) and in develo** animals. To correlate the evolution of the enzymatic activit...

    J P Colombo, E Peheim, C Bachmann, Edith Müller, J Bircher in Pediatric Research (1976)

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    Article

    Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

    An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. “Ketotic hyperglycinemia” was diagnosed when she was 3 years old. ...

    Hildegard Przyrembel, H. J. Bremer, M. Duran in European Journal of Pediatrics (1979)

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    Chapter and Conference Paper

    Quality Control Trial in a Screening Laboratory

    The International Federation of Clinical Chemistry (IFCC) defines quality control (QC) as the study of those errors that are the responsibility of the laboratory and the procedures used to recognize and minimi...

    C. Bachmann, J. P. Colombo in Neonatal Screening for Inborn Errors of Metabolism (1980)

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    Article

    Effects of standard oral glucose loading on the renin-angiotensin-aldosterone system and its relationship to circulating insulin

    Der Einfluß einer oralen Standard-Glukosebelastung (100 g) auf die Plasma-Konzentrationen von Glukose, Insulin, Kalium, Renin und Aldosteron wurde bei 10 liegenden Normalpersonen untersucht (Gruppe A). Das Ver...

    C. Beretta-Piccoli, Prof. Dr. P. Weidmann, J. Flammer, Z. Glück in Klinische Wochenschrift (1980)

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    Article

    Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias

    Orotic acid excretion in urine is increased in ornithine transcarbamylase deficiency, citrullinemia and argininemia; it is barely increased in argininosuccinic aciduria and normal in carbamylphosphate syntheta...

    C. Bachmann, J. P. Colombo in European Journal of Pediatrics (1980)

  8. Article

    Confidence limits for the incidence of metabolic disorders screened in Switzerland

    The incidence of rare disorders in the population is usually indicated in the literature by a rate, without any confidence limits added. Using data of the Swiss screening program for metabolic disorders in new...

    C Bachmann, J P Colombo in Pediatric Research (1980)

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    Article

    Diuretic treatment and serum lipoproteins: Effects of tienilic acid and indapamide

    Treatment with the commonly used diuretic, chlorthalidone, has previously been found to increase the serum low-density-lipoprotein cholesterol (LDL-C) fraction. Therefore, the effects of two new agents, tienil...

    Prof. Dr. P. Weidmann, A. Meier, R. Mordasini, W. Riesen in Klinische Wochenschrift (1981)

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    Article

    Neonatal mass screening for metabolic disorders

    The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only disease screened for on a population wide basis in almost all countries is phenylket...

    H. Bickel, C. Bachmann, R. Beckers, N. J. Brandt in European Journal of Pediatrics (1981)

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    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)

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    Chapter

    N-Acetylglutamate Synthetase (NAGS) Deficiency : Diagnosis, Clinical Observations and Treatment

    NAGS plays an important role in the short term regulation of urea synthesis. This enzyme has extensively been studied by Shigesada and Tatibana in rodents 1 ,2,3. We have purified human NAGS in order to find out ...

    C. Bachmann, J. P. Colombo, K. Jaggi in Urea Cycle Diseases (1982)

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    Chapter

    Orotic Acid in Urine and Hyperammonemia

    Orotoc acid (OA) an intermediary metabolite of the pyrimidine synthesis pathway is formed from carbamylphosphate (CP) and aspartate (Fig. 1). In the liver these precursors are synthetised mainly in the mitocho...

    C. Bachmann, J. P. Colombo in Urea Cycle Diseases (1982)

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    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)

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    Article

    Carbamyl phosphate synthetase deficiency with lethal neonatal outcome

    A neonate with pronounced hyperammonaemia died at the age of 6 days. Absence of liver carbamyl phosphate synthetase activity was demonstrated. This is the eighth reported patient with a severe variant of isola...

    J. Jaeken, H. Devlieger, C. Bachmann, J. Van Aerde in European Journal of Pediatrics (1982)

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    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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    Chapter

    Organic Acids in Urine: Sample Preparation for GC/MS

    A rapid diagnosis is important for the successful treatment of organic acidurias. The determination of organic acids in urine is usually done by gas chromatography, preferably coupled with mass spect-rometry (...

    C. Bachmann, R. Bühlmann, J. P. Colombo in Organic Acidurias (1984)

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    Chapter

    Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency

    Multiple carboxylase deficiency (MCD) is characterized by decreased activities of the biotin-dependent carboxy-lases and a specific urinary organic acid pattern. The early-onset form is due to a defect of holo...

    M. Di Rocco, A. Superti-Furga, P. Durand, R. Cerone, C. Romano in Organic Acidurias (1984)

  19. Article

    Increase of Tryptophan and 5-Hydroxyindole Acetic Acid in the Brain of Ornithine Carbamoyltransferase Deficient Sparse-Fur Mice

    Summary: Sparse-fur mice, 28 d of age with the x-chromosomal inherited defect of ornithine carbamoyltransferase, were used to investigate if tryptophan and the serotonin pathway in the brain are affected in th...

    C Bachmann, J P Colombo in Pediatric Research (1984)

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    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)

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