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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
    • Family anamnesis 1
    • Family anamnesis 2
    • Experiences of a patient at the Geneticist
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Monthly Archives: September 2022

The situation is getting worse

Posted on 27. September 2022 by LotzeAdmin

We have just learned that the last laboratory to report the controversial mutations is now filtering the results.
The consequences are not foreseeable, we stay tuned.

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
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