Detalhe da pesquisa
1.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185710
2.
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
J Inherit Metab Dis
; 43(3): 574-585, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707734
3.
microRNAs as biomarkers in Pompe disease.
Genet Med
; 21(3): 591-600, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997386
4.
Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.
Value Health
; 22(9): 1003-1011, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31511176
5.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414226
6.
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
J Inherit Metab Dis
; 41(2): 209-219, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143201
7.
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).
Am J Hematol
; 93(2): 205-212, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29090476
8.
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Mol Ther
; 25(9): 2117-2128, 2017 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28629821
9.
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
Annu Rev Genomics Hum Genet
; 15: 173-94, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25184529
10.
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Mol Genet Metab
; 122(3): 122-129, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28847676
11.
Cerebrospinal fluid ß-glucocerebrosidase activity is reduced in parkinson's disease patients.
Mov Disord
; 32(10): 1423-1431, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28843015
12.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Hum Mutat
; 37(2): 139-47, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499107
13.
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Mol Genet Metab
; 118(3): 206-213, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27198631
14.
Role of LIMP-2 in the intracellular trafficking of ß-glucosidase in different human cellular models.
FASEB J
; 29(9): 3839-52, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018676
15.
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
Nucleic Acids Res
; 42(2): 1291-302, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24150945
16.
Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patients.
Pharmacoepidemiol Drug Saf
; 24(3): 329-33, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25656910
17.
Enzyme replacement and substrate reduction therapy for Gaucher disease.
Cochrane Database Syst Rev
; (3): CD010324, 2015 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25812601
18.
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.
Mol Genet Metab
; 113(3): 213-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25127542
19.
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
Clin Genet
; 95(2): 336-338, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450550
20.
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease.
Mov Disord
; 29(8): 1019-27, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436092