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Giugliani, Luciana
125  results:
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1

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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2

Morquio‐like dysostosis multiplex presenting with neuronopa..:

Stockler‐Ipsiroglu, Sylvia ; Yazdanpanah, Nahid ; Yazdanpanah, Mojgan...
JIMD Reports.  60 (2021)  1 - p. 23-31 , 2021
Link: https://doi.org/10.1002/..
 
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3

Clinical research challenges in rare genetic diseases in Br..:

Giugliani, Luciana ; Vanzella, Claudia ; Zambrano, Marina Bauer...
Genetics and Molecular Biology.  42 (2019)  1 suppl 1 - p. 305-311 , 2019
Link: https://doi.org/10.1590/..
 
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4

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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5

Linguistic Validation of the Phenylketonuria - Quality of L..:

Vicente, Fabíola ; Jurecki, Elaina ; Giovannetti, Daniela...
Journal of Inborn Errors of Metabolism and Screening.  7 (2019)  - p. , 2019
Link: https://doi.org/10.1590/..
 
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6

Clinical findings in Brazilian patients with adult GM1 gang..:

Giugliani, Luciana ; Steiner, Carlos Eduardo ; Kim, Chong Ae...
JIMD Reports.  49 (2019)  1 - p. 96-106 , 2019
Link: https://doi.org/10.1002/..
 
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7

Safety and clinical efficacy of AGT-181, a brain penetratin..:

Giugliani, Roberto ; Giugliani, Luciana ; Corte, Amauri Dalla...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S54 , 2018
Link: https://doi.org/10.1016/..
 
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8

Neurocognitive and somatic stabilization in pediatric patie..:

Giugliani, Roberto ; Giugliani, Luciana ; de Oliveira Poswar, Fabiano...
Orphanet Journal of Rare Diseases.  13 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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9

Somatic effects of AGT-181 in patients with mucopolysacchar..:

Giugliani, Luciana ; Donis, Karina Carvalho ; Poswar, Fabiano..
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S53 , 2018
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

Rapidly advancing phenotype consistently identified in five..:

Giugliani, Roberto ; Ribeiro, Márcia ; Paula, Ana-Carolina...
Molecular Genetics and Metabolism.  108 (2013)  2 - p. S44 , 2013
Link: https://doi.org/10.1016/..
 
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12

Morquio‐like dysostosis multiplex presenting with neuronopa..:

Stockler‐Ipsiroglu, Sylvia ; Yazdanpanah, Nahid ; Yazdanpanah, Mojgan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260481/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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13

Morquio-like dysostosis multiplex presenting with neuronopa..:

Ipsiroglu, Sylvia Stockler ; Yazdanpanah, Nahid ; Yazdanpanah, Mojgan...
JIMD reports. Heidelberg. Vol. 60 (2021), p. 23-31..  , 2021
Link: http://hdl.handle.net/10..
 
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14

Clinical research challenges in rare genetic diseases in Br..:

Giugliani, Luciana ; Vanzella, Claudia ; Zambrano, Marina Bauer...
10.1590/1678-4685-gmb-2018-0174.  , 2019
Link: http://www.scielo.br/sci..
 
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15

Clinical research challenges in rare genetic diseases in Br..:

Giugliani, Luciana ; Vanzella, Cláudia ; Zambrano, Marina Bauer...
Genetics and molecular biology. Ribeirão Preto. Vol. 42, n. 1, suppl. 1 (2019), p. 305-311.  , 2019
Link: http://hdl.handle.net/10..
 
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