Search Results - "Filho, Claudio Sampaio"

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil by Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono, Régis, Trapp, Franciele Barbosa, Michelin-Tirelli, Kristiane, Souza, Carolina F.M., Rojas Málaga, Diana, Pasqualim, Gabriela, Brusius-Facchin, Ana Carolina, Giugliani, Roberto

“…Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade…”
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Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil by Camargo Neto, Eurico, Schulte, Jaqueline, Pereira, Jamile, Bravo, Heydy, Sampaio-Filho, Claudio, Giugliani, Roberto

“…We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital…”
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Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases by Málaga, Diana Rojas, Brusius-Facchin, Ana C, Michelin-Tirelli, Kristiane, Félix, Têmis M, Schulte, Jaqueline, Pereira, Jamile, Neto, Eurico Camargo, Filho, Claudio Sampaio, Giugliani, Roberto

“…When a low activity of acid α-glucosidase (GAA) is found, particularly in newborn screening programs, to differentiate α- glucosidase pseudo deficiency from…”
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Research Article Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases by Málaga, Diana Rojas, Facchin, Ana C Brusius, Tirelli, Kristiane Michelin, Félix, Têmis M, Schulte, Jaqueline, Pereira, Jamile, Neto, Eurico Camargo, Filho, Claudio Sampaio, Giugliani, Roberto

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Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil by Bravo-Villalta, Heydy V, Neto, Eurico C, Schulte, Jaqueline, Pereira, Jamile, Sampaio-Filho, Cláudio, Burin, Maira G, Bitencourt, Fernanda H, Sebastião, Fernanda M, Guidobono, Régis R, Brusius-Facchin, Ana C, Pasqualim, Gabriela, Rojas-Málaga, Diana E, Matte, Ursula S, Giugliani, Roberto

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