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Juliana Gilbert Pessoa

Explore the profile of Juliana Gilbert Pessoa including associated specialties, affiliations and a list of published articles. Areas
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Citations 65
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Recent Articles
1.
Turaca L, de Faria D, Kyosen S, Teixeira V, Motta F, Pessoa J, et al.
Gene . 2015 Feb; 561(1):124-31. PMID: 25681614
Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important...
2.
Turaca L, Pessoa J, Motta F, Munoz Rojas M, Muller K, Lourenco C, et al.
J Hum Genet . 2012 May; 57(6):347-51. PMID: 22551898
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs...
3.
Brentani H, Caballero O, Camargo A, da Silva A, da Silva Jr W, Dias Neto E, et al.
Proc Natl Acad Sci U S A . 2003 Nov; 100(23):13418-23. PMID: 14593198
Whereas genome sequencing defines the genetic potential of an organism, transcript sequencing defines the utilization of this potential and links the genome with most areas of biology. To exploit the...