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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
    • 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
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Fabry disease: The pituitary gland can also be affected!

Posted on 19. April 2023 by ML

We have added a page on the pituitary gland

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
    • 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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