Detalhe da pesquisa
1.
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts.
Biochim Biophys Acta
; 1812(7): 711-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21419220
2.
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
J Inherit Metab Dis
; 33(6): 727-35, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838899
3.
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
em Inglês
| MEDLINE | ID: mdl-18429048
4.
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
em Inglês
| MEDLINE | ID: mdl-16329099
5.
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Hum Mutat
; 26(2): 164, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16010684
6.
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Hum Mutat
; 25(3): 320, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15712269
7.
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Hum Mutat
; 26(3): 282, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088929
8.
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
em Inglês
| MEDLINE | ID: mdl-15605411
9.
Pulmonary involvement in an adult female affected by type B Niemann Pick disease.
Sarcoidosis Vasc Diffuse Lung Dis
; 22(3): 229-33, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16315787
10.
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
em Inglês
| MEDLINE | ID: mdl-21179066
11.
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
em Inglês
| MEDLINE | ID: mdl-17443679
12.
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
em Inglês
| MEDLINE | ID: mdl-15297807
13.
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Mol Genet Metab
; 81(3): 203-8, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14972326
14.
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Am J Med Genet A
; 121A(3): 225-30, 2003 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12923862
15.
Biología de los fagocitos / Biology of the phagocite
Arch. argent. alerg. inmunol. clín
; 25(3): XVII-XVIII, nov. 1994.
Artigo
em Espanhol
| LILACS | ID: lil-144313