3 Result(s)
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Luis A. Barrera
Medicine & Public Health
Human Genetics
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Article
Open AccessNeural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of ...
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Article
Open AccessResearch, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the train...
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Chapter
Ethical Aspects on Rare Diseases
In this chapter we discuss several of the most relevant subjects related to ethics on Rare Diseases. Some general aspects are discussed such as the socio-psychological problems that confront the patients and t...
