Publikationen

Originalien & Fachzeitschriften

  1. Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002 Dec 26;347(26):2122-32
  2. Hoffmann B, Reinhardt D, Koletzko B. Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease. Eur J Gastroenterol Hepatol. 2004 Oct;16(10):1067-9.
  3. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R; FOS European Investigators. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet. 2005 Mar;42(3):247-52.
  4. Hoffmann B, Mayatepek E. Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics 2005 Oct;36(5):285-9
  5. Hoffmann B, Schwarz M, Häussinger D, Mayatepek E, Wendel U. Zur Behandlungssituation erwachsener Patienten mit angeborenen Stoffwechselkrankheiten - Eine Erhebung in Deutschland. Med Klin (Munich). 2005 Oct 15;100(10):617-23
  6. Hoffmann B, Koch GH, Schweitzer-Krantz S, Wendel U, Mayatepek E. Deficient alpha-galactosidase A activity in plasma but no Fabry disease - a pitfall in diagnosis. Clin Chem Lab Med. 2005;43(11):1276-7
  7. Hoffmann B, Mayatepek E. Neuropathic pain in Fabry disease: Cause, perception, findings and improvement by Enzyme Replacement Therapy. Res Adv in Neurology 2005;2: 63-77
  8. Hoffmann B, Helbling C, Schadewaldt P, Wendel U. Impact of longitudinal plasma leucine levels on the Intellectual Outcome in patients with classic MSUD. Pediatr Res 2006 Jan;59(1):17-20
  9. Hoffmann B, Mayatepek E. Morbus Fabry – Eine Herausforderung an die Pädiatrie. Klin Padiatr. 2006 Jan-Feb;218(1):38-40.
  10. Hoffmann B. Psychiatric Manifestation of Fabry Disease: Symptoms, Causes, and Therapeutic Approaches. Current Medical Literature – Lysosomal Storage Diseases 2006; 6(1): 7-11
  11. Hoffmann B, Schwahn B, Knobbe CB, Vogel M, Blohm M, Mayatepek E, Wendel U. Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. Neuropediatrics 2006 Jun;37(3):163-5
  12. Hoffmann B, Knauer-Fischer S, Wendel U. Hypergonadotroper Hypogonadismus bei Galaktosämie: Empfehlungen für Diagnostik und Therapie. Monatsschr Kinderheilkunde 2007; 155: 29-34
  13. Hoffmann B, Keshav S. Gastrointestinal symptoms in Fabry disease: Everything is possible, including treatment. Acta Paediatr 2007, 96(S455): 84-86
  14. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A, on behalf of the FOS European Investigators. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy - A retrospective analysis from the Fabry Outcome Survey. Clin J Pain 2007,23 (6): 535-542
  15. Hoffmann B, Schwarz M, Mehta A, Keshav S, on behalf of the FOS European Investigators. Gastrointestinal symptoms in 342 patients with Fabry disease: Prevalence and response to enzyme replacement therapy. Clin Gastroeterol Hepatol 2007, 5(12):1447-1453
  16. Hoffmann B. Beyond the curtain – An investigator’s view on Clinical Studies in Germany. The Monitor, April 2008: 81-83
  17. Al Sawaf S, Mayatepek E, Hoffmann B. Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed. J Inherited Metab Dis 2008, 31(4):473-480
  18. Hoffmann B, Beck M, Rolfs A, Neumann HPH. Morbus Fabry – Komplexe Klinik, einfache Diagnostik, kausale Therapie. Dtsch Med Wochenschr 2008; 133: 1965–1972
  19. Hoffmann B, Mayatepek E. Why should I suspect Fabry disease in children. European Pediatrics 2009, 2(2):21-22
  20. Hoffmann B, Mayatepek E. Morbus Fabry - Oft gesehen, selten erkannt. Dtsch Arztebl Int 2009; 106(26):440-7
  21. Guest Editors: Beck M, Bodamer O, Das A, Gal A, Gieselmann V, Giuliani R, Hoffmann B, Lampe C, Marquardt T, Nitz G, Plöckinger U, Schlander M, Weigl M, Wolf P. Maroteaux-Lamy-syndrome (mucopolysaccharidosis type VI): diagnosis, treatment and future perspectives. Opinions on Current Issues in Medicine, 2009 July: 1-15
  22. Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet Journal of Rare Diseases 2009, 4:21
  23. Hoffmann B, Schadewaldt P, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U. Longitudinal Assessment of Intellectual Achievement in Patients with Classical Galactosaemia. Pediatrics 2010;125:e374–e381
  24. Mayatepek E, Hoffmann B, Meissner T. Inborn Errors of Carbohydrate Metabolism. Best Practise & Research: Clinical Gastroenterology 2010, 607-618
  25. Hoffmann B, Mayatepek E. Lysosomal Storage Diseases To Date. J Ped Sciences 2011;3(1):e72
  26. Hoffmann B, Wendel U, Schweitzer-Krantz S. Cross-sectional analyses of speech and cognitive performance in 32 patients with Classic Galactosemia. J Inherited Metab Dis 2011, 34(2):421-7
  27. Hoffmann B, Schulze-Frenking G, Al Sawaf S, Beck M, Mayatepek E. Hunter disease before and under enzyme replacement therapy - A case series. Ped Neurol 2011;45:181-184
  28. Hoffmann B, Schulze-Frenking G, Al Sawaf S, Beck M, Mayatepek E. Response Letter. Ped Neurol 2012 Mar;46(3):200
  29. Hoffmann B, Dragano N, Schweitzer-Krantz S. Living situation, occupation and Health Related Quality of Life in adult patients with Classic Galactosemia. J Inherited Metab Dis 2012, 35(6):1051-58
  30. Wasserscheid K, Backendorf A, Michna D, Mallmann R, Hoffmann B. Long-term Outcome after suicidal Colchicine-Intoxication in a 14 years old girl - Case Report and Review of Literature. Ped Emerg Care 2013 Jan;29(1):89-92
  31. Co-Autor der AWMF-Leitlinie zu Morbus Fabry, 2013, AWMF-Register-Nr.: 030 - 134

Bücher & Buchbeiträge

  1. Hoffmann B.  Crashkurs Anatomie, 3. Auflage, Urban & Fischer, München 2006
  2. Hoffmann B.  Crashkurs Pädiatrie, Urban & Fischer, München 2003
  3. de Valk H, van Spronsen FJ, Hoffmann B, Dionisi-Vici C, Lee PJ. Fertility and Pregnancy. In: de Valk, Harold; Barrientos Zaira (Editors): Practical Approach to Rare Metabolic Disorders in Adulthood. Lemma, Den Haag. 2005. S. 49-62
  4. Hoffmann B, Schwarz M, Leonard J. Galactosaemia. In: de Valk, Harold; Barrientos Zaira (Editors): Practical Approach to Rare Metabolic Disorders in Adulthood. Lemma, Den Haag. 2005. S. 127-140
  5. Hoffmann B. Effects of Enzyme Replacement Therapy on pain and overall quality of life. In: Mehta, Atul; Beck, Michael; Sunder-Plassmann, Gere (Editors): Fabry Disease – Perspectives from five years of FOS. Oxford Pharmagenesis Ltd., Oxford. 2006. S. 385-395
  6. Hoffmann B. Andere Länder, andere Sitten – Kostenübernahmeregelungen in anderen Ländern. In: vom Dahl, Stephan; Wendel, Udo; Strohmeier, Georg (Hrsg.): Genetisch bedingte Stoffwechselerkrankungen. Deutscher Ärzteverlag, Köln 2006
  7. Hoffmann B. Lysosomale Speicherkrankheiten. In: Herold, Gerd: Innere Medizin. Auflage 2006/2007
  8. Mitarbeit an: Mayatepek E (Hrsg.)  Angeborene Stoffwechselerkrankungen - Früherkennung, Leitsymptome und Therapieoptionen. UNI-MED Science, Bremen 2006
  9. Hoffmann B.  Die Pest in der Literatur – eine Untersuchung von Boccaccio bis Camus. Shaker Verlag, Aachen 2007
  10. Mitarbeit an: Mayatepek E (Ed.) Inborn Errors of Metabolism - Early Detection, Key Symptoms and Therapeutic Options. UNI-MED Science, Bremen, Germany 2008.
  11. Mitarbeit an: Fuchs A, Hermanns-Clausen M, Hoffmann B, Kieslich M, Wintergerst U, Ruß A. Arzneimittel Pädiatrie pocket. Börm Bruckmeier 2013