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Munoz-Rojas, Maria Veronica
520
results:
Search for persons
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Format
Online (520)
Mediatypes
E-Books (2)
Articles (Online) (450)
Bookchapter (Online) (20)
OpenAccess-fulltext (48)
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english (396)
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spanish (22)
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1
Survival of patients with chronic acid sphingomyelinase def..:
Pulikottil-Jacob, Ruth
;
Dehipawala, Sumudu
;
Smith, Brittany
...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101040 , 2024
Link:
https://doi.org/10.1016/..
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2
Survival of patients with acid sphingomyelinase deficiency ..:
Pulikottil-Jacob, Ruth
;
Munoz-Rojas, Maria Veronica
;
Gusto, Gaelle
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107282 , 2023
Link:
https://doi.org/10.1016/..
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3
The MPS I Registry - 15 years of service to the community:
Giugliani, Roberto
;
Clatterbuck, Cinde L.
;
Guffon, Nathalie
...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S61 , 2019
Link:
https://doi.org/10.1016/..
?
4
Awareness of MPS I among cardiologists:
Munoz-Rojas, Maria Veronica
;
Pangaud, Nicolas
;
Valayannopoulos, Vassili
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S101 , 2018
Link:
https://doi.org/10.1016/..
?
5
Short stature as a presenting symptom of attenuated Mucopol..:
Martins, Ana Maria
;
Lindstrom, Kristin
;
Kyosen, Sandra Obikawa
...
BMC Endocrine Disorders. 18 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
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6
Betagalsidase safety: Brazilian experience with patients un..:
Martins, Ana Maria
;
Aranda, Paulo
;
Biagini, Gilson
...
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S74-S75 , 2014
Link:
https://doi.org/10.1016/..
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7
Inclusion of medical genetics in primary health care: repor..:
Vieira, Taiane Alves
;
Giugliani, Camila
;
da Silva, Larissa Pozzebon
...
Journal of Community Genetics. 4 (2012) 1 - p. 137-145 , 2012
Link:
https://doi.org/10.1007/..
?
8
Intrathecal administration of recombinant human N-acetylgal..:
Muñoz-Rojas, María Verónica
;
Horovitz, Dafne Dain Gandelman
;
Jardim, Laura Bannach
...
Molecular Genetics and Metabolism. 99 (2010) 4 - p. 346-350 , 2010
Link:
https://doi.org/10.1016/..
?
9
Importance of Disease Recognition and Proper Disease Nomenc..:
Ribes, Manuel
;
Muñoz-Rojas, Maria-Veronica
Clinical Pediatrics. 60 (2021) 14 - p. 591-592 , 2021
Link:
https://doi.org/10.1177/..
?
10
Clinical relevance of endpoints in clinical trials for acid..:
Jones, Simon A.
;
McGovern, Margaret
;
Lidove, Olivier
...
Molecular Genetics and Metabolism. 131 (2020) 1-2 - p. 116-123 , 2020
Link:
https://doi.org/10.1016/..
?
11
Immune tolerance induction for laronidase treatment in muco..:
Giugliani, Roberto
;
Vieira, Taiane Alves
;
Carvalho, Clarissa Gutierrez
...
Molecular Genetics and Metabolism Reports. 10 (2017) - p. 61-66 , 2017
Link:
https://doi.org/10.1016/..
?
12
Short stature as a presenting symptom of attenuated Mucopol..:
Martins, Ana Maria
;
Lindstrom, Kristin
;
Kyosen, Sandra Obikawa
...
qt33k8q3mr. , 2018
Link:
https://escholarship.org..
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13
Novel GAA mutations in patients with Pompe disease:
Turaça, Lauro Thiago
;
de Faria, Douglas Oliveira Soares
;
Kyosen, Sandra Obikawa
...
Gene. 561 (2015) 1 - p. 124-131 , 2015
Link:
https://doi.org/10.1016/..
?
14
New mutations in the GLA gene in Brazilian families with Fa..:
Turaça, Lauro Thiago
;
Pessoa, Juliana Gilbert
;
Motta, Fabiana Louise
...
Journal of Human Genetics. 57 (2012) 6 - p. 347-351 , 2012
Link:
https://doi.org/10.1038/..
?
15
Inclusion of medical genetics in primary health care: repor..:
Vieira, Taiane Alves
;
Giugliani, Camila
;
da Silva, Larissa Pozzebon
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537966. , 2012
Link:
http://www.ncbi.nlm.nih...
1-15