Title |
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
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Published in |
BMC Cardiovascular Disorders, June 2012
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DOI | 10.1186/1471-2261-12-39 |
Pubmed ID | |
Authors |
Antonio Pisani, Massimo Imbriaco, Carmela Zizzo, Giuseppe Albeggiani, Paolo Colomba, Riccardo Alessandro, Francesco Iemolo, Giovanni Duro |
Abstract |
Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Brazil | 1 | 20% |
India | 1 | 20% |
United States | 1 | 20% |
Unknown | 2 | 40% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 80% |
Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Spain | 2 | 4% |
India | 1 | 2% |
Ukraine | 1 | 2% |
Italy | 1 | 2% |
Unknown | 43 | 90% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 10 | 21% |
Student > Master | 7 | 15% |
Student > Bachelor | 5 | 10% |
Student > Postgraduate | 5 | 10% |
Student > Doctoral Student | 4 | 8% |
Other | 11 | 23% |
Unknown | 6 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 22 | 46% |
Biochemistry, Genetics and Molecular Biology | 9 | 19% |
Agricultural and Biological Sciences | 4 | 8% |
Mathematics | 1 | 2% |
Nursing and Health Professions | 1 | 2% |
Other | 2 | 4% |
Unknown | 9 | 19% |