Title |
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, April 2014
|
DOI | 10.1186/1750-1172-9-59 |
Pubmed ID | |
Authors |
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho |
Abstract |
With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 2% |
Unknown | 60 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 12 | 20% |
Researcher | 12 | 20% |
Student > Bachelor | 7 | 11% |
Student > Master | 7 | 11% |
Other | 5 | 8% |
Other | 5 | 8% |
Unknown | 13 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 20 | 33% |
Medicine and Dentistry | 11 | 18% |
Agricultural and Biological Sciences | 7 | 11% |
Computer Science | 2 | 3% |
Nursing and Health Professions | 2 | 3% |
Other | 7 | 11% |
Unknown | 12 | 20% |