B Fowler

Summary

Affiliation: University of Basel
Country: Switzerland

Publications

  1. ncbi Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM
    B Fowler
    Metabolic Unit, University Children s Hospital, Roemergasse 8, Basel, 4058, Switzerland
    J Inherit Metab Dis 31:680-9. 2008
  2. ncbi [Homocystein--an independent risk factor for cardiovascular and thrombotic diseases]
    B Fowler
    Stoffwechselabteilung, Universitäts Kinderspital beider Basel, Basel
    Ther Umsch 62:641-6. 2005
  3. ncbi The folate cycle and disease in humans
    B Fowler
    Metabolic Unit, University Children s Hospital Basel UKBB, Basel, Switzerland
    Kidney Int Suppl 78:S221-9. 2001
  4. ncbi Causes of and diagnostic approach to methylmalonic acidurias
    B Fowler
    Metabolic Unit, University Children s Hospital, Roemergasse 8, Basel, CH 4058, Switzerland
    J Inherit Metab Dis 31:350-60. 2008
  5. ncbi Disturbed ratio of erythrocyte and plasma S-adenosylmethionine/S-adenosylhomocysteine in peripheral arterial occlusive disease
    F M Loehrer
    Metabolic Unit, University Children's Hospital Basel, UKBB, Romergasse 8, CH-4005, Basel, Switzerland
    Atherosclerosis 154:147-54. 2001
  6. ncbi Effect of low doses of 5-methyltetrahydrofolate and folic acid on plasma homocysteine in healthy subjects with or without the 677C-->T polymorphism of methylenetetrahydrofolate reductase
    P Litynski
    University Children's Hospital, Basel, Switzerland
    Eur J Clin Invest 32:662-8. 2002
  7. ncbi Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro
    T Suormala
    Metabolic Unit, University Children s Hospital, Basel, Switzerland
    Pediatr Res 41:666-73. 1997
  8. ncbi Mammalian TOR: a homeostatic ATP sensor
    P B Dennis
    The Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH 4058, Basel, Switzerland
    Science 294:1102-5. 2001
  9. ncbi Clinical use and rational management of homocysteine, folic acid, and B vitamins in cardiovascular and thrombotic diseases
    O Stanger
    Universitätsklinik für Herzchirurgie, Private Medizinische Universität, Landeskliniken Salzburg, Mullner Hauptstrasse 48, 5020 Salzburg, Austria
    Z Kardiol 93:439-53. 2004
  10. ncbi Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation
    T Rummel
    Klinik und Poliklinik für Kinder und Jugendmedizin, Universitat Munster, Stoffwechsellabor, Munster, Germany
    J Inherit Metab Dis 30:401. 2007

Collaborators

Detail Information

Publications16

  1. ncbi Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM
    B Fowler
    Metabolic Unit, University Children s Hospital, Roemergasse 8, Basel, 4058, Switzerland
    J Inherit Metab Dis 31:680-9. 2008
    ..There is considerable evidence that performance in biochemical genetic testing has improved since the introduction of ERNDIM schemes...
  2. ncbi [Homocystein--an independent risk factor for cardiovascular and thrombotic diseases]
    B Fowler
    Stoffwechselabteilung, Universitäts Kinderspital beider Basel, Basel
    Ther Umsch 62:641-6. 2005
    ..Elevated homocysteine can be lowered in such cases with a combination of folic acid, vitamin B12 vitamin B6. The results of ongoing trials on the impact of such treatment on risk of vascular disease are awaited with great interest...
  3. ncbi The folate cycle and disease in humans
    B Fowler
    Metabolic Unit, University Children s Hospital Basel UKBB, Basel, Switzerland
    Kidney Int Suppl 78:S221-9. 2001
    ..Knowledge of their catalytic and molecular properties is important in understanding possible causes of moderate hyperhomocysteinemia, as for example, the well-known 677 C-->T transition of methylene tetrahydrofolate reductase...
  4. ncbi Causes of and diagnostic approach to methylmalonic acidurias
    B Fowler
    Metabolic Unit, University Children s Hospital, Roemergasse 8, Basel, CH 4058, Switzerland
    J Inherit Metab Dis 31:350-60. 2008
    ..The reliable characterization of patients with isolated MMAuria pinpoints the correct gene for mutation analysis. Reliable classification of these patients is essential for ongoing and future prospective studies on treatment and outcome...
  5. ncbi Disturbed ratio of erythrocyte and plasma S-adenosylmethionine/S-adenosylhomocysteine in peripheral arterial occlusive disease
    F M Loehrer
    Metabolic Unit, University Children's Hospital Basel, UKBB, Romergasse 8, CH-4005, Basel, Switzerland
    Atherosclerosis 154:147-54. 2001
    ..Since the ratio of AdoMet/AdoHcy is closely linked with the activity of numerous enzymatic methylation reactions, these results suggest that methylation may be impaired in these patients...
  6. ncbi Effect of low doses of 5-methyltetrahydrofolate and folic acid on plasma homocysteine in healthy subjects with or without the 677C-->T polymorphism of methylenetetrahydrofolate reductase
    P Litynski
    University Children's Hospital, Basel, Switzerland
    Eur J Clin Invest 32:662-8. 2002
    ..A prolonged effect 6 months after ceasing treatment with 5-methyltetrahydrofolate in homozygous subjects represents a further phenotypic effect of the 677TT methylenetetrahydrofolate reductase genotype...
  7. ncbi Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro
    T Suormala
    Metabolic Unit, University Children s Hospital, Basel, Switzerland
    Pediatr Res 41:666-73. 1997
    ..The results in the five patients are in accordance with a primary defect of holocarboxylase synthetase due to a decreased affinity for biotin, in one patient combined with a decreased Vmax...
  8. ncbi Mammalian TOR: a homeostatic ATP sensor
    P B Dennis
    The Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH 4058, Basel, Switzerland
    Science 294:1102-5. 2001
    ..Here we demonstrate that the mTOR pathway is influenced by the intracellular concentration of ATP, independent of the abundance of amino acids, and that mTOR itself is an ATP sensor...
  9. ncbi Clinical use and rational management of homocysteine, folic acid, and B vitamins in cardiovascular and thrombotic diseases
    O Stanger
    Universitätsklinik für Herzchirurgie, Private Medizinische Universität, Landeskliniken Salzburg, Mullner Hauptstrasse 48, 5020 Salzburg, Austria
    Z Kardiol 93:439-53. 2004
    ..The results of ongoing randomized controlled intervention trials must be available before screening for and treatment of hyperhomocysteinemia can be recommended for the apparently healthy general population...
  10. ncbi Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation
    T Rummel
    Klinik und Poliklinik für Kinder und Jugendmedizin, Universitat Munster, Stoffwechsellabor, Munster, Germany
    J Inherit Metab Dis 30:401. 2007
    ..677TT genotype and might require in addition to folate substitution further therapy to normalize homocysteine levels...
  11. ncbi Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke
    L Pinto
    , FFFCMPA, Brazil
    J Inherit Metab Dis 29:205-6. 2006
    ..We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode...
  12. ncbi Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases
    M Linnebank
    Children s Hospital, University of Munster, Munster, Germany
    J Inherit Metab Dis 28:1167-8. 2005
    ..Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical complications of MAT I/III deficiency...
  13. ncbi CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families
    P Zavadakova
    Institute of Inherited Metabolic Diseases, Charles University, 1st Faculty of Medicine, Prague, Czech Republic
    J Inherit Metab Dis 25:461-76. 2002
    ..Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is caused by mutations in the MTRR gene...
  14. ncbi 3-OMD and homocysteine plasma levels in parkinsonian patients
    Th Muller
    Department of Neurology, St Josef Hospital, Ruhr University Bochum, Federal Republic of Germany
    J Neural Transm 109:175-9. 2002
    ..52, p = 0.0006) correlated to 3-OMD. Homocysteine induces vascular disease. Previous studies showed an increase of ischaemic heart- and cerebrovascular disease in treated parkinsonian patients...
  15. ncbi Defects in human methionine synthase in cblG patients
    S Gulati
    Biochemistry Department, University of Nebraska, Lincoln 68588 0664, USA
    Hum Mol Genet 5:1859-65. 1996
    ..In addition, they suggest directly that mutations in methionine synthase can lead to elevated homocysteine, implicated both in neural tube defects and in cardiovascular diseases...
  16. ncbi Renal heme metabolism in hereditary tyrosinemia: use of succinylacetone in rat renal tubules
    P A Wyss
    Department of Medicine, Medical College of Virginia, Richmond 23298
    Biochim Biophys Acta 1070:300-4. 1991
    ..Cytochrome P-450 content remained unaffected. Impairment of iron uptake and/or transport within the cell or enhancement of heme catabolism via a non-heme oxygenase-dependent pathway could explain the observations...