A step forward in disease modelling for mitochondrial diseases

One step forward

Genotype-phenotype correlation in Pompe disease, a step forward

BACKGROUND Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family. METHODS For a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walt...

One step forward, one step sideways? Expanding research capacity for neglected diseases

BACKGROUND There is general agreement, including from the pharmaceutical industry, that current market based methods of generating research into the development of pharmaceutical products that are relevant for developing countries do not work. This conclusion is relevant not just for the most neglected diseases such as leishmaniasis but even for global diseases such as cancer and cardiovascular...

Resources, challenges and way forward in rare mitochondrial diseases research

Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology...

[A step forward].

Nos gustaría comenzar esta nueva etapa agradeciendo a Elsevier y al anterior equipo editorial su esfuerzo, su constancia y su contribución al desarrollo de la Enfermería desde que comenzaron su andadura en el año 2004. Sin duda, Enfermería Clínica ha brindando a los enfermeros y enfermeras la posibilidad de colaborar en un objetivo común: el avance de la profesión para poder ofrecer nuestra mej...