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Trapp, Franciele Barbosa
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1

Disease progression in Sanfilippo type B: Case series of Br..:

Montenegro, Yorran Hardman Araújo ; Kubaski, Francyne ; Trapp, Franciele Barbosa...
Genetics and Molecular Biology.  47 (2024)  1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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2

Updated birth prevalence and relative frequency of mucopoly..:

Josahkian, Juliana Alves ; Trapp, Franciele Barbosa ; Burin, Maira Graeff...
Genetics and Molecular Biology.  44 (2021)  1 - p. , 2021
Link: https://doi.org/10.1590/..
 
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3

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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4

Genotype–phenotype studies in a large cohort of Brazilian p..:

Josahkian, Juliana Alves ; Brusius‐Facchin, Ana Carolina ; Netto, Alice Brinckmann Oliveira...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  3 - p. 349-356 , 2021
Link: https://doi.org/10.1002/..
 
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5

Can MPS patients be identified by facial features:

Kubaski, Francyne ; Trapp, Franciele Barbosa ; Castro Moreira, Maria L....
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S88 , 2019
Link: https://doi.org/10.1016/..
 
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6

Information and Diagnosis Networks – tools to improve diagn..:

Vieira, Taiane Alves ; Trapp, Franciele Barbosa ; Souza, Carolina Fischinger Moura de...
Genetics and Molecular Biology.  42 (2019)  1 suppl 1 - p. 155-164 , 2019
Link: https://doi.org/10.1590/..
 
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7

MPS Brazil Network: A summary of all mucopolysaccharidosis ..:

Kubaski, Francyne ; Zambrano, Marina ; Giugliani, Luciana...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S88 , 2019
Link: https://doi.org/10.1016/..
 
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8

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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9

Investigation of newborns with abnormal results in a newbor..:

Bravo, Heydy ; Neto, Eurico Camargo ; Schulte, Jaqueline...
Molecular Genetics and Metabolism Reports.  12 (2017)  - p. 92-97 , 2017
Link: https://doi.org/10.1016/..
 
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10

Disease duration and survival in Brazilian Niemann-Pick dis..:

Giugliani, Luciana ; Van der Linder, Vanesa ; Van Der Linden Junior, Helio...
Molecular Genetics and Metabolism.  117 (2016)  2 - p. S50-S51 , 2016
Link: https://doi.org/10.1016/..
 
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11

Oxysterol measurement in plasma: A potentially useful tool ..:

Giugliani, Roberto ; Ribas, Graziela ; Civallero, Gabriel...
Molecular Genetics and Metabolism.  114 (2015)  2 - p. S47-S48 , 2015
Link: https://doi.org/10.1016/..
 
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12

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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13

REDE MPS BRASIL: INVESTIGAÇÃO INTEGRADA E ABRANGENTE DAS MU..:

Trapp, Franciele Barbosa ; Santos, Osmar Rachor Toledo dos ; Silva, Cleiton do Amaral
Salão de Extensão (23. : 2022 : Porto Alegre, RS). Caderno de resumos. Porto Alegre : UFRGS/PROREXT, 2022..  , 2022
Link: http://hdl.handle.net/10..
 
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14

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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15

Biochemical diagnosis of aromatic-L-amino acid decarboxylas..:

Civallero, Gabriel Eduardo Santiago ; Kubaski, Francyne ; Pereira, Danilo...
Molecular genetics and metabolism reports. New York. Vol. 32 (2022), 100888, 4 p..  , 2022
Link: http://hdl.handle.net/10..
 
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