Roca Ayats, Neus (Date of defense: 2019-11-18)
Osteoporosis is a complex disease, determined by genetic and environmental factors, characterized by a low bone mass and microarchitectural deterioration of bone tissue, with a consequent decrease of ...
Gholami, Behjat (Date of defense: 2017-09-18)
Osteoporosis is a general skeletal disorder. It is characterized by a low bone mass and a microarchitectural deterioration of bone tissue, which increase bone fragility and susceptibility to fracture. ...
Agueda Calpena, Lídia (Date of defense: 2010-09-20)
Els resultats presentats en aquesta tesi s'emmarquen en el camp de l'estudi de les bases genètiques de l'osteoporosi. L'osteoporosi és un clar exemple de malaltia complexa, on els factors genètics tenen ...
Sànchez Ollé, Gessamí (Date of defense: 2011-10-07)
En aquesta tesi s’ha realitzat una aproximació terapèutica per a la malaltia de Gaucher, basada en xaperones farmacològiques. La malaltia de Gaucher és una malaltia d’acúmul lisosòmic d'herència ...
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 ...
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 ...