Bustamante Pineda, Mariona (Date of defense: 2007-09-18)
L'osteoporosi, una malaltia complexa determinada tant per factors genètics com ambientals, està caracteritzada per una reduïda densitat mineral òssia (DMO), un deteriorament de la microarquitectura òssia ...
Gomez Grau, Marta (Date of defense: 2015-12-18)
Lysosomal storage disorders (LSDs) are a group of more than 50 different genetic disorders due to the lack of degradation of substrates within lysosomes. Most of them are caused by mutations in genes ...
Cornet Bartolomé, David (Date of defense: 2019-07-09)
Infertility, defined by the World Health Organization (WHO) as the inability to conceive after a year of unprotected sex, is a disease that affects 1 in 9 couples of reproductive age worldwide. Most of ...
Canals Montferrer, Isaac (Date of defense: 2015-01-23)
Sanfilippo C syndrome is a lysosomal storage disorder that presents an autosomal recessive inheritance pattern and is caused by mutations in the HGSNAT gene, identified in 2006 in the chromosome 8. This ...
Benetó Gandia, Noelia (Date of defense: 2020-07-16)
El objetivo general de esta tesis doctoral ha sido la generación de nuevos modelos celulares para el síndrome de Sanfilippo y su utilización para ensayar una aproximación terapéutica para esta enfermedad ...
Sarrión Pérez-Caballero, Patricia (Date of defense: 2013-07-19)
Mi trabajo de tesis está compuesto por dos estudios diferenciados. Por un lado, el análisis molecular de la Osteocondromatosis Múltiple (MO) en pacientes españoles y latinoamericanos. El uso combinado ...
Martínez-Gil, Núria (Date of defense: 2021-03-12)
Osteoporosis is a complex disease characterized by low bone mass, microarchitectural deterioration, and increased fracture risk. It is the most common bone disease that affects more than 200 million ...