Detalhe da pesquisa
1.
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
Mol Genet Metab
; 102(2): 226-8, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21036086
2.
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Hum Mutat
; 30(6): 978-84, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19370764
3.
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
Mol Genet Metab
; 97(4): 309-11, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19454373
4.
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Hum Mutat
; 29(6): E58-67, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18429048
5.
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Hum Mutat
; 27(1): 119, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16329099
6.
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Hum Mutat
; 25(1): 100, 2005 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15605411
7.
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Eur J Hum Genet
; 19(4): 422-31, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21179066
8.
Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress.
J Cell Physiol
; 212(1): 223-35, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17443679
9.
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Hum Hered
; 57(3): 138-41, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15297807