X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay

Female Fabry disease patients and X-chromosome inactivation

(2018) Patrycja Juchniewicz et al.   GENE

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease

(2018) Shogo Minamikawa et al.   JOURNAL OF HUMAN GENETICS

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

(2017) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

(2016) Malte Lenders et al.   Orphanet Journal of Rare Diseases

X-chromosome inactivation in female patients with Fabry disease

(2015) L. Echevarria et al.   CLINICAL GENETICS

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

(2013) Takahito Inoue et al.   JOURNAL OF HUMAN GENETICS

X-inactivation in Fabry disease

(2012) Deborah Elstein et al.   GENE

Genetics and epigenetics of the X chromosome

(2011) Céline Morey et al.   Annals of the New York Academy of Sciences

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

(2011) Seiji Saito et al.   JOURNAL OF HUMAN GENETICS

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Fabry disease: a review of current management strategies

(2010) A. Mehta et al.   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

(2009) Stephen Waldek et al.   GENETICS IN MEDICINE