+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Improving the detection of heterozygous females for Fabry disease



Improving the detection of heterozygous females for Fabry disease



Molecular Genetics and Metabolism 120(1-2): S47-S48




Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 065005431

Download citation: RISBibTeXText

DOI: 10.1016/j.ymgme.2016.11.099


Related references

Cardiac manifestations of Anderson-Fabry disease in heterozygous females. Journal of the American College of Cardiology 40(9): 1668-1674, 2002

Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatrica . Suppl. 95(451): 30-38, 2006

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. Virchows Archiv 453(4): 329-338, 2008

Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. Journal of Inherited Metabolic Disease 31(Suppl. 3): 483-487, 2008

Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females. Acta Paediatrica . Supplement 92(443): 33, 2003

Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females. Journal of Dermatological Science 52(1): 61-64, 2008

Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. Journal of Inherited Metabolic Disease 26(7): 617-627, 2003

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females. Genetics and Molecular Research 13(3): 6752-6758, 2014

Natural history of Fabry disease: Progression of the nephropathy in a large series of affected males and heterozygous females. 2008

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots. Clinica Chimica Acta; International Journal of Clinical Chemistry 413(3-4): 422-427, 2012

Natural history of Fabry disease in females in the Fabry Outcome Survey. Journal of Medical Genetics 43(4): 347-352, 2006

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genetics in Medicine 11(11): 790-796, 2009

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Molecular Genetics and Metabolism 93(2): 112-128, 2008

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Disease 30(2): 184-192, 2007

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. Orphanet Journal of Rare Diseases 11(1): 88, 2016