Fabry's disease; angiokeratoma corporis diffusum

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Introduction

X-linked recessive inborn error of metabolism.

Etiology

Epidemiology

rare (young men)

Pathology

Genetics

Clinical manifestations

Laboratory

Complications

Management

More general terms

Additional terms

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
  2. Color Atlas and Synopsis of Clinical Dermatology, Common and Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 159
  3. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 175
  4. 4.0 4.1 4.2 4.3 Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 18. American College of Physicians, Philadelphia 2009, 2012, 2018.
  5. Laney DA, Bennett RL, Clarke V et al Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-64. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23860966
  6. Feriozzi S, Torras J, Cybulla M et al The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol. 2012 Jan;7(1):60-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22246281 Free PMC Article
  7. Pisani A, Visciano B, Imbriaco M et al The kidney in Fabry's disease. Clin Genet. 2014 Oct;86(4):301-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24645664
  8. NINDS Fabry's Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Fabry-Disease-Information-Page

Patient information

Fabry's disease patient information

Database