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Munõz Rojas, Maria Verônica
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1

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/..
 
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2

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/..
 
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3

The Brazilian Consensus on the Management of Pompe Disease:

Llerena Jr., Juan C. ; Horovitz, Dafne Maria ; Nagahashi Marie, Suely Kazue...
The Journal of Pediatrics.  155 (2009)  4 - p. S47-S56 , 2009
Link: https://doi.org/10.1016/..
 
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4

Guidelines for the Management of Mucopolysaccharidosis Type..:

Martins, Ana Maria ; Dualibi, Ana Paula ; Norato, Denise...
The Journal of Pediatrics.  155 (2009)  4 - p. S32-S46 , 2009
Link: https://doi.org/10.1016/..
 
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5

Grebe-Quelce-Salgado chondrodystrophy: Prenatal diagnosis o..:

Muñoz Rojas, María Verónica ; Gonçalves, Luís Flávio
American Journal of Medical Genetics.  113 (2002)  2 - p. 193-199 , 2002
Link: https://doi.org/10.1002/..
 
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6

Capturing phenotypic heterogeneity in MPS I: results of an ..:

de Ru, Minke H ; Teunissen, Quirine GA ; van der Lee, Johanna H...
Orphanet Journal of Rare Diseases.  7 (2012)  1 - p. , 2012
Link: https://doi.org/10.1186/..
 
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7

The role of enzyme replacement therapy in severe Hunter syn..:

Muenzer, Joseph ; Bodamer, Olaf ; Burton, Barbara...
European Journal of Pediatrics.  171 (2011)  1 - p. 181-188 , 2011
Link: https://doi.org/10.1007/..
 
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8

ACE activity is modulated by the enzyme α-galactosidase A:

Batista, Elice Carneiro ; Carvalho, Luiz Roberto ; Casarini, Dulce Elena...
Journal of Molecular Medicine.  89 (2010)  1 - p. 65-74 , 2010
Link: https://doi.org/10.1007/..
 
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9

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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10

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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11

Clinical relevance of endpoints in clinical trials for acid..:

Jones, Simon A ; McGovern, Margaret M ; Lidove, Olivier...
Molecular genetics and metabolism. Amsterdam. Vol. 131, no. 1-2 (2020), p. 116-123.  , 2020
Link: http://hdl.handle.net/10..
 
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12

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/..
 
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13

Genotype-phenotype relationships in mucopolysaccharidosisty..:

Clarke, Lorne A ; Giugliani, Roberto ; Guffon, Nathalie...
Clinical genetics : an international journal of genetics in medicine. Vol. 96, no. 4 (2019), p. 281–289..  , 2019
Link: http://hdl.handle.net/10..
 
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14

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/..
 
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15

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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