X-inactivation in Fabry disease
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference16 articles.
1. Natural history of Danon disease;Boucek;Genet. Med.,2011
2. Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies;Busque;Blood,2009
3. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations;de Camargo Pinto;Am. J. Med. Genet. A,2011
4. Natural history of Fabry disease in females in the Fabry Outcome Survey;Deegan;J. Med. Genet.,2006
5. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy;Desnick;Ann. Intern. Med.,2003
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1. Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease;International Journal of Molecular Sciences;2024-07-29
2. Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease;Cureus;2024-05-30
3. Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients;International Journal of Molecular Sciences;2024-05-09
4. Fabry Disease: Cardiac Implications and Molecular Mechanisms;Current Heart Failure Reports;2024-01-30
5. Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations;Genes;2023-12-26
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