Title |
Pompe Disease: From Basic Science to Therapy
|
---|---|
Published in |
Neurotherapeutics, October 2018
|
DOI | 10.1007/s13311-018-0655-y |
Pubmed ID | |
Authors |
Lara Kohler, Rosa Puertollano, Nina Raben |
Abstract |
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. However, both sides would agree that many findings in basic science-such as the Nobel prize-winning discoveries of glycogen metabolism, the lysosome, and autophagy-have become the foundation of our understanding of Pompe disease. The disease is a glycogen storage disorder, a lysosomal disorder, and an autophagic myopathy. In this review, we will discuss how these past discoveries have guided Pompe research and impacted recent therapeutic developments. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 299 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 38 | 13% |
Student > Master | 36 | 12% |
Student > Ph. D. Student | 29 | 10% |
Researcher | 26 | 9% |
Other | 11 | 4% |
Other | 31 | 10% |
Unknown | 128 | 43% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 49 | 16% |
Medicine and Dentistry | 40 | 13% |
Agricultural and Biological Sciences | 19 | 6% |
Neuroscience | 14 | 5% |
Nursing and Health Professions | 11 | 4% |
Other | 31 | 10% |
Unknown | 135 | 45% |