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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
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    • Diseases of the pituitary gland
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Diagnostik-Pingpong: ein neuer Artikel im Laborjournal zum Thema Einstufung umstrittener Varianten und die Folgen davon!

Posted on 1. November 2023 by LotzeAdmin

Ein neuer Artikel zum Einstufung der umstrittenen Varianten und die Folgen wie Behandlungssabruch einer erfolgreichen Therapie wurde im Laborjournal veröffentlicht:

Morbus Fabry – Diagnostik-Pingpong (Laborjournal, Oktober 2023, PDF der Ausgabe, Seite 12-15)

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

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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