Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

By K. Macdermot, A. Holmes, Alec Miners. Journal of Medical Genetics, 2001

685 citations recorded by the source corpus.

Subfields: Neurology, Physiology, Rheumatology

View Paper: https://www.semanticscholar.org/paper/8c991155b96808ac0c6162cda4e6666bb2971175

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In Physiology

1. D. Germain

Citations in the corpus

• Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females (2001, neutral): “In this cohort, two women (3.3%) developed ESRF at ages 35 and 37 respectively, and so far neither has had a renal transplant. In these two women, the age at onset was comparable to AFD males, but the frequency of ESRF was much lower in carriers than the 26% found in hemizygous males.”
• Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy (2003, background): “In most patients, these symptoms persist or worsen with adulthood (19).”