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Morbus Fabry – A143T and D313Y

Informations about Fabry Disease and controversial variants D313Y, A143T, R118C a.o.

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  • Main Page
  • What is Morbus Fabry
    • Inheritance with Morbus Fabry
    • Biochemical explanations for morbus fabry
  • Discussed Variants
  • Intronic variants
  • Possible Symptoms from Morbus Fabry
    • Diseases of the pituitary gland
    • Symptoms in children
    • Literature for symptoms
  • Differential diagnosis/ Misdiagnosis
  • Patients destiny
    • Somatization disorder
    • Heike: My body is hypersensitive
    • Manuela, 55 y. A143T, Where to begin…
    • Female patient, 50 y.
    • Female patient, 57 y. Fabry or not?
    • Female patientin from US, Impact
    • Gabi, 60 years old
    • Female patient from UK with variant R118C
  • Therapy success
    • Gaby
    • Manuela
    • Female Patient 57 y.
    • Female Patient 65 y. D313Y
    • Female Patient 50 y. D313Y
    • Female Patient 37 y.
    • Male patient
  • Literature research
    • Literature links for interested people
  • Laboratory test/Genetics
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Monthly Archives: January 2023

Literature links for interested people

Posted on 30. January 2023 by LotzeAdmin

We created a page with literature links und explanations for interested people: Literature links for interested people

Posted in Allgemein

newest blog entries

  • Neue Einträge auf der Medien-Seite: Auch abseits von Morbus Fabry liegt leider vieles im Argen…. 6. December 2025
  • MFSH statement on VUS (Fabry News 22/2025) 17. September 2025
  • Parallels between Fabry and ME/CFS, a coincidence? 26. February 2025
  • News from Fabrienne on pain treatment for Fabry disease. 11. October 2024
  • News from Fabrienne: Something is wrong in the land of Fabry, criticism of Fabry research! 22. May 2024
  • Diagnostik-Pingpong: ein neuer Artikel im Laborjournal zum Thema Einstufung umstrittener Varianten und die Folgen davon! 1. November 2023
  • News from Fabrienne: Does Galactose Really Help? 26. August 2023
  • MFSH also informs about VUS 24. August 2023
  • Behandlungsabbruch bei Morbus Fabry: Beitrag im ZDF 15. August 2023
  • The treatment of Fabry disease with D+galactose 2. July 2023
  • MFSH Patient Academy 2023, Bad Salzschlirf, Germany, Topic D313Y and other “controversial” variants 18. June 2023
  • New videos from Fabrienne: Part 4 – There are no benign Fabry mutations 14. June 2023
  • New videos from Fabrienne: healthy cells and “Fabry cells”. 2. June 2023
  • New Website for fabry patients and interested parties 17. May 2023
  • Podcast mit einer betroffenen Patientin 16. May 2023

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Seiteninhalt

  • Morbus Fabry from patients view
  • What is Morbus Fabry
    • Inheritance with Morbus Fabry
    • Biochemical explanations for morbus fabry
  • Discussed Variants
  • Intronic Variants
  • Possible Symptoms from Morbus Fabry
    • Diseases of the pituitary gland
    • Symptoms in children
    • Literature for symptoms
  • Differential diagnosis/ Misdiagnosis
  • Patients destiny
    • Somatization disorder
    • Heike: My body is hypersensitive
    • Manuela, 55 yr. (A143T), Where to begin…
    • Female patient, 50 years old
    • Patientin, 57 J. Fabry oder nicht?
    • Patientin aus USA: Auswirkungen
    • Gabi, 60 years old
    • Female patient from UK with variant R118C
  • Therapy success
    • Gaby
    • Manuela
    • Patientin, 57 Jahre alt
    • Patientin 65 Jahre, D313Y
    • Female Patient with D313Y, 50 y.
    • Patientin, 37 Jahre
    • Male patient
  • Literature research
    • Literature links for interested people
  • Laboratory test/Genetics
    • Family anamnesis 1
    • Family anamnesis 2
    • Experiences of a patient at the Geneticist
  • Media Coverage/Downloads
  • Hilfreiche Adressen
  • Blog
  • News feed
  • Impressum
  • Datenschutzerklärung
  • Contact
    • Facebook group
  • Verfügbare Therapien
  • en
    • de
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