Detalhe da pesquisa
1.
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.
Molecules
; 29(2)2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38257371
2.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457240
3.
Synthesis of a New ß-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.
Molecules
; 27(13)2022 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807262
4.
Morquio B disease: From pathophysiology towards diagnosis.
Mol Genet Metab
; 132(3): 180-188, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558080
5.
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Mol Genet Metab
; 129(2): 47-58, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711734
6.
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
BMC Med Genet
; 19(1): 183, 2018 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30305043
7.
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Metab Brain Dis
; 32(5): 1529-1536, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577204
8.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Hum Mutat
; 36(3): 357-68, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545067
9.
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Hum Mutat
; 35(11): 1271-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25137622
10.
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
ScientificWorldJournal
; 2013: 625824, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24294134
11.
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Biochim Biophys Acta
; 1812(7): 782-90, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21497194
12.
Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant.
Front Pediatr
; 10: 930775, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35874562
13.
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.
Biomedicines
; 10(8)2022 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009508
14.
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Mol Genet Metab Rep
; 25: 100689, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33312878
15.
SARS-CoV-2 infection in a patient with propionic acidemia.
Orphanet J Rare Dis
; 15(1): 306, 2020 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115512
16.
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
J Neurol
; 266(1): 92-101, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30382391
17.
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Sci Rep
; 9(1): 17684, 2019 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776384
18.
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Eur J Hum Genet
; 16(11): 1311-7, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18560446
19.
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.
Eur J Gastroenterol Hepatol
; 20(2): 118-21, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18188031
20.
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Hum Mutat
; 28(2): 204, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17221873