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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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  • What is Morbus Fabry
    • Inheritance with Morbus Fabry
    • Biochemical explanations for morbus fabry
  • Discussed Variants
  • Intronic variants
  • Possible Symptoms from Morbus Fabry
    • 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
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    • Female Patient 50 y. D313Y
    • Female Patient 37 y.
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Fabry misdiagnoses: MS, ME/CFS, fibromyalgia, Parkinson’s disease, and more.

Posted on 4. March 2023 by ML

Frequent misdiagnoses result in a Fabry diagnosis taking over 15 years on average. Many patients are never properly diagnosed. However, many of them could be helped causally. We have listed all known misdiagnoses here.

This entry was posted in Allgemein by ML. Bookmark the permalink.

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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
    • 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
  • en
    • de
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