Detalhe da pesquisa
1.
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.
Int J Mol Sci
; 23(1)2021 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008754
2.
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.
Mol Genet Metab
; 130(3): 170-171, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386848
3.
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved.
Mol Genet Metab
; 123(1): 43-49, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198592
4.
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
J Inherit Metab Dis
; 41(5): 865-876, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460029
5.
The right tool for the job-Fit for purpose training programs in adult metabolic medicine.
J Inherit Metab Dis
; 45(5): 864-865, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35513340
6.
Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
Cytogenet Genome Res
; 148(1): 14-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27160288
7.
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
8.
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
9.
Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.
BMC Cardiovasc Disord
; 14: 86, 2014 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25026990
10.
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
Eur J Pediatr
; 173(6): 805-13, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395639
11.
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.
J Inherit Metab Dis
; 36(1): 83-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22562700
12.
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease.
Mol Genet Metab Rep
; 37: 101010, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053923
13.
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Orphanet J Rare Dis
; 18(1): 338, 2023 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37891668
14.
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Mol Genet Metab
; 107(3): 534-41, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22959828
15.
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians.
JIMD Rep
; 63(5): 468-474, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36101815
16.
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN.
Orphanet J Rare Dis
; 17(1): 109, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246188
17.
Urinary peptides as a diagnostic tool for renal failure detected by matrix-assisted laser desorption/ionisation mass spectrometry: an evaluation of their clinical significance.
Eur J Mass Spectrom (Chichester)
; 17(3): 245-53, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21828415
18.
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy.
Mol Genet Metab Rep
; 29: 100808, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34660203
19.
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).
J Clin Med
; 10(20)2021 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34682919
20.
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study.
Orphanet J Rare Dis
; 15(1): 143, 2020 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32505193