CV Lattes
Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. Escola Paulista de Medicina (EPM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
graduate at Ciências Biológicas Modalidade Médica from Universidade Estadual Paulista Júlio de Mesquita Filho (2002) and master's at Paediatrics from Universidade Federal de São Paulo (2006). Has experience in Genetics, focusing on Human and Medical Genetics (Source: Lattes Curriculum)
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Mucopolysaccharidosis type I (MPS I) is caused by deficiency of alpha-L-iduronidase (IDUA), which impairs the degradation of glycosaminoglycans in the lysosomes. Besides glycosaminoglycans accumulation, MPS I patients present high quantities of gangliosides in the brain, liver, spleen and kidneys. This secondary accumulation has also been observed in different brain structures from Idua k…
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