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Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
by
Kubaski, Francyne
,
Sousa, Inês
,
Amorim, Tatiana
,
Pereira, Danilo
,
Trometer, Joe
,
Souza, Alexandre
,
Ranieri, Enzo
,
Polo, Giulia
,
Burlina, Alberto
,
Brusius-Facchin, Ana Carolina
,
Netto, Alice Brinckmann Oliveira
,
Tomatsu, Shunji
,
Giugliani, Roberto
Published in
International journal of neonatal screening
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Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders
by
Skrinjar, Philipp
,
Schwarz, Markus
,
Lexmüller, Stefan
,
Mechtler, Thomas P
,
Zeyda, Maximilian
,
Greber-Platzer, Susanne
,
Trometer, Joe
,
Kasper, David C
,
Mikula, Hannes
Published in
ACS central science
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Pilot study of newborn screening for six lysosomal diseases in Brazil
by
Kubaski, Francyne
,
Sousa, Ines
,
Amorim, Tatiana
,
Pereira, Danilo
,
Silva, Camilo
,
Chaves, Vitor
,
Brusius-Facchin, Ana Carolina
,
Netto, Alice B.O.
,
Soares, Juliano
,
Vairo, Filippo
,
Poletto, Edina
,
Trometer, Joe
,
Souza, Alexandre
,
Ranieri, Enzo
,
Polo, Giulia
,
Hong, Xinying
,
Herbst, Zackary M.
,
Burlina, Alberto
,
Gelb, Michael H.
,
Giugliani, Roberto
Published in
Molecular genetics and metabolism
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Pilot study update: Newborn screening for lysosomal disorders in Brazil
by
Kubaski, Francyne
,
Sousa, Ines
,
Amorim, Tatiana
,
Badaró, Juliana
,
Pereira, Danilo
,
Silva, Camilo
,
Brusius-Facchin, Ana C.
,
Netto, Alice B.O.
,
Trometer, Joe
,
Souza, Alexandre
,
Ranieri, Enzo
,
Polo, Giulia
,
Hong, Xinying
,
Burlina, Alberto
,
Gelb, Michael
,
Giugliani, Roberto
Published in
Molecular genetics and metabolism
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Newborn screening for six lysosomal diseases: Pilot study in Brazil
by
Kubaski, Francyne
,
Sousa, Inês
,
Amorim, Tatiana
,
Pereira, Danilo
,
Trometer, Joe
,
Souza, Alexandre
,
Ranieri, Enzo
,
Polo, Giulia
,
Hong, Xinying
,
Gelb, Michael H.
,
Giugliani, Roberto
Published in
Molecular genetics and metabolism
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Newborn screening for six lysosomal diseases in Brazil: Pilot study update
by
Kubaski, Francyne
,
Sousa, Inês
,
Amorim, Tatiana
,
Badaró, Juliana
,
Pereira, Danilo
,
Brusius-Facchin, Ana C.
,
Netto, Alice B.O.
,
Trometer, Joe
,
Souza, Alexandre
,
Ranieri, Enzo
,
Polo, Giulia
,
Burlina, Alberto
,
Hong, Xinying
,
Herbst, Zackary M.
,
Gelb, Michael H.
,
Giugliani, Roberto
Published in
Molecular genetics and metabolism
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Long-term stability of I2S, NAGLU, GALNS, ARSB, GUSB and TPP1 enzymes in frozen dried blood spots
by
Potier, Anna
,
Cournoyer, Jason
,
Trometer, Joe
,
Vranish, Alyssa
,
DiPerna, James
,
Lindroos, Hanne
,
Livshin, Laurie
,
Schermer, Mack
Published in
Molecular genetics and metabolism
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Multiplex MS/MS method to measure MPS II, MPS IIIB, MPS IVA, MPS VI enzyme activities in dried blood spots
by
Potier, Anna
,
Cournoyer, Jason
,
Trometer, Joe
,
Schermer, Mack
,
Yi, Fan
,
Kumar, Naveen
,
Spacil, Zdenek
,
Kumar, Arun
,
Liao, Hsuan-Chieh
,
Gelb, Michael H.
,
Scott, Ronald
,
Turecek, Frantisek
Published in
Molecular genetics and metabolism
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Six-plex MS/MS method to measure I2S, NAGLU, GALNS, ARSB, GUSB and TPP1 enzyme activities in dried blood spots
by
Cournoyer, Jason
,
Potier, Anna
,
Trometer, Joe
,
Schermer, Mack
,
Vranish, Alyssa
,
DiPerna, James
,
Liu, Yang
,
Yi, Fan
,
Chennamaneni, Naveen
,
Spacil, Zdenek
,
Kumar, Arun
,
Liao, Joyce
,
Gelb, Michael
,
Ronald Scott, C.
,
Turecek, Frantisek
Published in
Molecular genetics and metabolism
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Molecular Genetics And Metabolism
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Acs Central Science
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International Journal Of Neonatal Screening
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Genetics & Heredity
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