Björn Hoffmann

Summary

Affiliation: Heinrich Heine University
Country: Germany

Publications

  1. ncbi request reprint Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding
    B Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    Neuropediatrics 37:163-5. 2006
  2. pmc Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
    B Hoffmann
    Department for General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    J Med Genet 42:247-52. 2005
  3. pmc Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
    Björn Hoffmann
    Department for General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Germany
    Orphanet J Rare Dis 4:21. 2009
  4. pmc Fabry disease-often seen, rarely diagnosed
    Björn Hoffmann
    Klinik fur Allgemeine Padiatrie, Universitatsklinikum Dusseldorf, Heinrich Heine Universitat, Dusseldorf, Germany
    Dtsch Arztebl Int 106:440-7. 2009
  5. doi request reprint [Asthma during pregnancy]
    A Gillissen
    Robert Koch Klinik, Thoraxzentrum des Klinikums St Georg, Leipzig
    Dtsch Med Wochenschr 133:1977-80. 2008
  6. doi request reprint [Fabry disease - complex clinical picture, simple diagnosis procedure, causal treatment]
    B Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat, Dusseldorf
    Dtsch Med Wochenschr 133:1965-72; quiz 1973-4. 2008
  7. ncbi request reprint Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey
    Bjoern Hoffmann
    University Children s Hospital, Heinrich Heine University Duesseldorf, Germany
    Clin J Pain 23:535-42. 2007
  8. ncbi request reprint Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment
    Björn Hoffmann
    University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Acta Paediatr Suppl 96:84-6. 2007
  9. ncbi request reprint Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities
    B Hoffmann
    Department of General Paediatrics, University Children s Hospital, Heinrich Heine University Duesseldorf, Germany
    Neuropediatrics 36:285-9. 2005
  10. ncbi request reprint [Situation of adult patients with inborn errors of metabolism. A survey in Germany]
    Björn Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat, Dusseldorf
    Med Klin (Munich) 100:617-23. 2005

Detail Information

Publications20

  1. ncbi request reprint Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding
    B Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    Neuropediatrics 37:163-5. 2006
    ..The gastric mucosa showed marked infiltration with Gaucher cells, in particular around the ulcer. Alterations of the gastrointestinal mucosa offer a new explanation for gastrointestinal bleedings in this disease...
  2. pmc Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
    B Hoffmann
    Department for General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    J Med Genet 42:247-52. 2005
    ..Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites...
  3. pmc Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
    Björn Hoffmann
    Department for General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Germany
    Orphanet J Rare Dis 4:21. 2009
    ..This review aims to summarize recent developments and progress with high impact for Fabry disease...
  4. pmc Fabry disease-often seen, rarely diagnosed
    Björn Hoffmann
    Klinik fur Allgemeine Padiatrie, Universitatsklinikum Dusseldorf, Heinrich Heine Universitat, Dusseldorf, Germany
    Dtsch Arztebl Int 106:440-7. 2009
    ..Its clinical manifestations are very diverse, and its differential diagnosis is correspondingly broad. Thus, there is often a delay before the diagnosis of Fabry disease is established...
  5. doi request reprint [Asthma during pregnancy]
    A Gillissen
    Robert Koch Klinik, Thoraxzentrum des Klinikums St Georg, Leipzig
    Dtsch Med Wochenschr 133:1977-80. 2008
  6. doi request reprint [Fabry disease - complex clinical picture, simple diagnosis procedure, causal treatment]
    B Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat, Dusseldorf
    Dtsch Med Wochenschr 133:1965-72; quiz 1973-4. 2008
  7. ncbi request reprint Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey
    Bjoern Hoffmann
    University Children s Hospital, Heinrich Heine University Duesseldorf, Germany
    Clin J Pain 23:535-42. 2007
    ..Fabry disease is a multisystemic life-threatening lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Symptoms of the disease may occur in different organs including kidney, heart, and the nervous system...
  8. ncbi request reprint Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment
    Björn Hoffmann
    University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Acta Paediatr Suppl 96:84-6. 2007
    ..The prevalence of gastrointestinal symptoms was reduced in patients after receiving enzyme replacement therapy with agalsidase alfa for 12 and 24 months. There was no correlation between gastrointestinal symptoms and body mass index...
  9. ncbi request reprint Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities
    B Hoffmann
    Department of General Paediatrics, University Children s Hospital, Heinrich Heine University Duesseldorf, Germany
    Neuropediatrics 36:285-9. 2005
    ....
  10. ncbi request reprint [Situation of adult patients with inborn errors of metabolism. A survey in Germany]
    Björn Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat, Dusseldorf
    Med Klin (Munich) 100:617-23. 2005
    ..Many patients have reached adulthood already, and thus may be attended by adult physicians. In this study the authors evaluated the situation of adult patients with metabolic diseases in Germany...
  11. ncbi request reprint [Fabry disease--a provocation for pediatrics]
    B Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat Dusseldorf
    Klin Padiatr 218:38-40. 2006
    ..Enzyme replacement therapy (ERT) offers an efficient treatment of Fabry disease. On the basis of newly diagnosed patients we describe the clinical picture, diagnosis and principles of ERT...
  12. doi request reprint Longitudinal assessment of intellectual achievement in patients with classical galactosemia
    Peter Schadewaldt
    Deutsches Diabetes Zentrum, Abteilung Klinische Biochemie und Pathobiochemie, Auf m Hennekamp 65, D 40225 Dusseldorf, Germany
    Pediatrics 125:e374-81. 2010
    ..To conduct a longitudinal assessment of long-term cognitive outcome in patients with classical galactosemia...
  13. doi request reprint Inborn errors of carbohydrate metabolism
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Best Pract Res Clin Gastroenterol 24:607-18. 2010
    ..A lactose-free infant formula can be life-saving in affected neonates whereas a strict fructose-restricted diet is indicated in hereditary fructose intolerance...
  14. doi request reprint Traffic exposure and subclinical cardiovascular disease: is the association modified by socioeconomic characteristics of individuals and neighbourhoods? Results from a multilevel study in an urban region
    N Dragano
    Department of Medical Sociology, University of Duesseldorf, PO Box 10 10 07, D 40001 Duesseldorf, Germany
    Occup Environ Med 66:628-35. 2009
    ..We examined whether the association between long-term exposure to high traffic and early signs of coronary artery disease is modified by SES...
  15. doi request reprint Living situation, occupation and health-related quality of life in adult patients with classic galactosemia
    Björn Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    J Inherit Metab Dis 35:1051-8. 2012
    ....
  16. ncbi request reprint Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD
    Björn Hoffmann
    Department of General Pediatrics, Heinrich Heine University, Duesseldorf, Germany
    Pediatr Res 59:17-20. 2006
    ..To achieve the best possible intellectual outcome for affected individuals, we recommend that in infants and preschool children the target range for plasma leucine should not exceed 200 micromol/L...
  17. doi request reprint Hunter disease before and during enzyme replacement therapy
    Björn Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Pediatr Neurol 45:181-4. 2011
    ..We conclude that all patients with mucopolysaccharidosis type II (those with and without clinical central nervous system involvement) may benefit from enzyme replacement therapy...
  18. doi request reprint Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
    Björn Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Siegen, Germany
    J Inherit Metab Dis 34:421-7. 2011
    ..Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ...
  19. ncbi request reprint Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy
    Bjoern Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Duesseldorf, Germany
    Clin Gastroenterol Hepatol 5:1447-53. 2007
    ....
  20. ncbi request reprint Deficient alpha-galactosidase A activity in plasma but no Fabry disease--a pitfall in diagnosis
    Bjoern Hoffmann
    Clin Chem Lab Med 43:1276-7. 2005