Maria Veronica Munoz Rojas
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Explore the profile of Maria Veronica Munoz Rojas including associated specialties, affiliations and a list of published articles.
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10
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203
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Recent Articles
1.
Turaca L, de Faria D, Kyosen S, Teixeira V, Motta F, Pessoa J, et al.
Gene
. 2015 Feb;
561(1):124-31.
PMID: 25681614
Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important...
2.
Turaca L, Pessoa J, Motta F, Munoz Rojas M, Muller K, Lourenco C, et al.
J Hum Genet
. 2012 May;
57(6):347-51.
PMID: 22551898
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs...
3.
Muenzer J, Bodamer O, Burton B, Clarke L, Frenking G, Giugliani R, et al.
Eur J Pediatr
. 2011 Nov;
171(1):181-8.
PMID: 22037758
Unlabelled: Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood-brain barrier. Nearly all published experience with...
4.
Giugliani R, Federhen A, Munoz Rojas M, Vieira T, Artigalas O, Pinto L, et al.
Genet Mol Biol
. 2011 Jun;
33(4):589-604.
PMID: 21637564
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation...
5.
Batista E, Carvalho L, Casarini D, Carmona A, Dos Santos E, da Silva E, et al.
J Mol Med (Berl)
. 2010 Oct;
89(1):65-74.
PMID: 20941593
Fabry disease is a multisystem X-linked disorder resulting from α-galactosidase A (α-GalA) gene mutations leading to the accumulation of globotriaosylceramide mainly in endothelium compromising heart, kidney, and brain. In Fabry...
6.
Giugliani R, Federhen A, Munoz Rojas M, Vieira T, Artigalas O, Pinto L, et al.
Rev Assoc Med Bras (1992)
. 2010 Aug;
56(3):271-7.
PMID: 20676532
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients...
7.
Llerena Jr J, Horovitz D, Marie S, Porta G, Giugliani R, Munoz Rojas M, et al.
J Pediatr
. 2009 Sep;
155(4 Suppl):S47-56.
PMID: 19765410
No abstract available.
8.
Martins A, Dualibi A, Norato D, Takata E, Santos E, Valadares E, et al.
J Pediatr
. 2009 Sep;
155(4 Suppl):S32-46.
PMID: 19765409
No abstract available.
9.
Munoz Rojas M, Chimelli L, Simoes A
Arq Bras Oftalmol
. 2005 Apr;
68(1):15-20.
PMID: 15824798
Purpose: To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling. Methods: We studied the DNA of 60 selected cataract patients through polymerase chain...
10.
Munoz Rojas M, Goncalves L
Am J Med Genet
. 2002 Oct;
113(2):193-9.
PMID: 12407712
Grebe-Quelce-Salgado chondrodystrophy is an autosomal recessive non-lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and...