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19 Result(s)

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  1. No Access

    Article

    Mutation analysis in 54 propionic acidemia patients

    Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprise...

    J. P. Kraus, E. Spector, S. Venezia, P. Estes… in Journal of Inherited Metabolic Disease (2012)

  2. No Access

    Article

    Propionic acidemia: neonatal versus selective metabolic screening

    Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.

    S. C. Grünert, S. Müllerleile, L. de Silva… in Journal of Inherited Metabolic Disease (2012)

  3. No Access

    Article

    Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

    Published data on treatment of fatty acid oxidation defects are scarce. Treatment recommendations have been developed on the basis of observations in 75 patients with long-chain fatty acid oxidation defects fr...

    U. Spiekerkoetter, M. Lindner, R. Santer… in Journal of Inherited Metabolic Disease (2009)

  4. No Access

    Article

    Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

    At present, long-chain fatty acid oxidation (FAO) defects are diagnosed in a number of countries by newborn screening using tandem mass spectrometry. In the majority of cases, affected newborns are asymptomati...

    U. Spiekerkoetter, M. Lindner, R. Santer… in Journal of Inherited Metabolic Disease (2009)

  5. No Access

    Article

    Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

    Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the regulation of plasma homocysteine levels. MTHFR deficiency, an autosomal recessive disorder, results in homocystinuria and hypomethioninaemia ...

    T. Rummel, T. Suormala, J. Häberle, H. G. Koch… in Journal of Inherited Metabolic Disease (2007)

  6. No Access

    Article

    Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel cases

    This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III def...

    M. Linnebank, F. Lagler, A. C. Muntau… in Journal of Inherited Metabolic Disease (2005)

  7. No Access

    Article

    Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay

    Molecular diagnosis of N-acetylglutamate synthase deficiency (NAGSD) has become possible now that the corresponding gene has been identified. We describe the genetic analysis of a patient with NAGSD using low-lev...

    J. Häberle, J. Denecke, E. Schmidt, H. G. Koch in Journal of Inherited Metabolic Disease (2003)

  8. No Access

    Article

    Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)

    Hereditary homocystinuria due to cystathionine β-synthase (CBS) deficiency is a rare disease (about 1:20 000 in Germany) often complicated by thromboembolism. Single mutations, which affect the C-terminal regi...

    M. Linnebank, R. Junker, D. G. Nabavi… in Journal of Inherited Metabolic Disease (2003)

  9. No Access

    Article

    Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the card

    Azelaic acid, sometimes found during analysis of Guthrie card blood samples, may be derived from the printing ink used to mark the spotting area.

    T. G. Brune, A. Ch. Lambrecht, H. G. Koch in Journal of Inherited Metabolic Disease (2002)

  10. No Access

    Article

    Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria

    Recent studies indicate that individual blood–brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. ...

    J. Weglage, D. Wiedermann, J. Denecke… in Journal of Inherited Metabolic Disease (2002)

  11. No Access

    Article

    Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

    A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characte...

    W. J. Kleijer, V. H. Garritsen, M. Linnebank… in Journal of Inherited Metabolic Disease (2002)

  12. No Access

    Article

    Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients

    In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual dose...

    J. Weglage, M. Grenzebach… in Journal of Inherited Metabolic Disease (2002)

  13. No Access

    Article

    Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?

    J. Denecke, W. Schlegel, H. G. Koch, R. Feldmann… in Journal of Inherited Metabolic Disease (2000)

  14. No Access

    Article

    Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls

    Even early-treated patients with phenylketonuria (PKU) have a higher risk of psychosocial maladjustment. This study was performed to determine whether emotional and behavioural problems are specific in phenylk...

    J. Weglage, M. Grenzebach, M. Pietsch… in Journal of Inherited Metabolic Disease (2000)

  15. No Access

    Article

    Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

    M. Linnebank, A. Homberger, B. Rapp, C. Winter… in Journal of Inherited Metabolic Disease (2000)

  16. No Access

    Article

    Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells

    Y. S. Shin, H. G. Koch, M. Köhler, G. Hoffmann… in Journal of Inherited Metabolic Disease (1998)

  17. No Access

    Article

    Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency

    E. Mayatepek, H. G. Koch, G. F. Hoffmann in Journal of Inherited Metabolic Disease (1997)

  18. No Access

    Article

    Carbohydrate-deficient glycoprotein syndrome type I: Determination of the oligosaccharide structure of newly synthesized glycoproteins by analysis of calnexin binding

    T. Marquardt, K. Ullrich, R. Niehues, H. -G. Koch… in Journal of Inherited Metabolic Disease (1996)

  19. No Access

    Article

    A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

    K. -P. Zimmer, T. Matsuura, J. -P. Colombo… in Journal of Inherited Metabolic Disease (1995)