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Facchin, Ana Carolina Brusius
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1

MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSON..:

Schwartz, Ida Vanessa Doederlein ; Pasqualotto, Amanda ; Schuh, Artur Francisco Schumacher...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107404 , 2023
Link: https://doi.org/10.1016/..
 
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2

Sanfilippo syndrome type B: Analysis of patients diagnosed ..:

Montenegro, Yorran Hardman Araújo ; de Souza, Carolina Fischinger Moura ; Kubaski, Francyne...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 760-767 , 2021
Link: https://doi.org/10.1002/..
 
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3

Sanfilippo syndrome type B: a review of patients diagnosed ..:

Federhen, Andressa ; Poswar, Fabiano Oliveira ; Trapp, Franciele Barbosa...
Molecular Genetics and Metabolism.  120 (2017)  1-2 - p. S45 , 2017
Link: https://doi.org/10.1016/..
 
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4

O49: Newborn screening for spinal muscular atrophy using re..:

Oliveira Netto, Alice Brinckmann ; Brusius Facchin, Ana Carolina ; Lemos, Julia...
Genetics in Medicine Open.  1 (2023)  1 - p. 100702 , 2023
Link: https://doi.org/10.1016/..
 
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5

Neonatal screening for spinal muscular atrophy : a pilot st..:

Netto, Alice Brinckmann Oliveira ; Facchin, Ana Carolina Brusius ; Lemos, Júlia Feltraco...
Genetics and molecular biology. Ribeirão Preto (SP). Vol. 46, n. 3, Supl. 1 (2023), e20230126, 8 p..  , 2023
Link: http://hdl.handle.net/10..
 
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6

Quantification of lysosphingomyelin and lysosphingomyelin-5..:

Kubaski, Francyne ; Burlina, Alberto ; Trapp, Franciele Barbosa...
Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p..  , 2022
Link: http://hdl.handle.net/10..
 
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7

Measurement of sulfatides in the amniotic fluid supernatant..:

Kubaski, Francyne ; Herbst, Zackary M ; Burin, Maira Graeff...
JIMD reports. Heidelberg. Vol. 63 (2022), p. 162-167..  , 2022
Link: http://hdl.handle.net/10..
 
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8

Standardization of an organic DNA extraction method from dr..:

Netto, Alice Brinckmann Oliveira ; Málaga, Diana Elizabeth Rojas ; Kubaski, Francyne..
Clinical and biomedical research. Porto Alegre. Vol. 42, no. 3 (2022), p. 218-225.  , 2022
Link: http://hdl.handle.net/10..
 
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9

Experience of the NPC Brazil network with a comprehensive p..:

Kubaski, Francyne ; Burlina, Alberto ; Polo, Giulia...
International journal of neonatal screening. Basel. Vol. 8, no. 3 (2022), 39, 10 p..  , 2022
Link: http://hdl.handle.net/10..
 
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10

Detection of mosaic variants in mothers of MPS II patients ..:

Netto, Alice Brinckmann Oliveira ; Facchin, Ana Carolina Brusius ; Leistner-Segal, Sandra...
Frontiers in molecular biosciences. Lausanne. Vol. 8 (2021), 789350, p. 1-8..  , 2021
Link: http://hdl.handle.net/10..
 
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11

May lysosomal-related genes be linked to atypical parkinson..:

Pasqualotto, Ana Paula ; Schuh, Artur Francisco Schumacher ; Rieder, Carlos Roberto de Mello...
Clinical and biomedical research. Porto Alegre.  , 2021
Link: http://hdl.handle.net/10..
 
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12

Difficulties in the diagnosis of Gaucher disease in a low-i..:

Pinto, Félix Pedro ; Nassone, Ema ; Ismail, Muhammad...
Journal of inborn errors of metabolism & screening. Porto Alegre. Vol. 9 (2021), e20200022, 9 p..  , 2021
Link: http://hdl.handle.net/10..
 
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13

Comparando diferentes protocolos para a identificação da de..:

Gonçalves, Rafael Caesar Gomes ; Facchin, Ana Carolina Brusius ; Saute, Jonas Alex Morales.
Clinical and biomedical research. Porto Alegre.  , 2021
Link: http://hdl.handle.net/10..
 
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14

Levantamento de casos alterados da triagem neonatal por esp..:

Brasil, Carolina Serpa ; Netto, Alice Brinckmann Oliveira ; Kubaski, Francyne..
Clinical and biomedical research. Porto Alegre.  , 2021
Link: http://hdl.handle.net/10..
 
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15

Updated birth prevalence and relative frequency of mucopoly..:

Josahkian, Juliana Alves ; Trapp, Franciele Barbosa ; Burin, Maira Graeff...
Genetics and molecular biology. Ribeirão Preto. Vol. 44, n. 1 (2021), e20201387, 6 p..  , 2021
Link: http://hdl.handle.net/10..
 
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