Detalhe da pesquisa
1.
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/ß-catenin signaling.
Hum Mol Genet
; 24(5): 1280-94, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326392
2.
A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.
Eur J Haematol
; 96(4): 352-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033455
3.
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Neurogenetics
; 15(2): 101-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478108
4.
Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
Sci Rep
; 11(1): 2594, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33510429
5.
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Hum Mutat
; 31(12): E1894-914, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886637
6.
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.
J Allergy Clin Immunol Pract
; 8(10): 3535-3542, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702516
7.
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Hum Mutat
; 30(11): E956-73, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19634183
8.
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
Neurogenetics
; 10(1): 49-58, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18758829
9.
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.
Biochim Biophys Acta
; 1762(4): 478-84, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16495038
10.
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Hum Mutat
; 25(5): 491-7, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15832315
11.
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Hum Mutat
; 20(3): 234-5, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12204005
12.
Validity of ß-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients.
Clin Biochem
; 47(13-14): 1293-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24945105
13.
First-trimester fetal nuchal translucency and inherited metabolic disorders.
Prenat Diagn
; 26(1): 77-80, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16378318
14.
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
Epilepsia
; 45(9): 1154-7, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15329082
15.
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Hum Genet
; 110(4): 351-5, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11941485
16.
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
Am J Med Genet A
; 120A(1): 84-7, 2003 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12794697
17.
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
Am J Med Genet A
; 134A(1): 95-6, 2005 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15690354