Detalhe da pesquisa
1.
How dietary advanced glycation end products could facilitate the occurrence of food allergy.
J Allergy Clin Immunol;
153(3): 742-758, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38042501
2.
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.
Rev Endocr Metab Disord;
2024 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38556561
3.
Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase.
J Enzyme Inhib Med Chem;
36(1): 2068-2079, 2021 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34565280
4.
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
J Inherit Metab Dis;
43(4): 770-777, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32064649
5.
Pathogenesis of Mucopolysaccharidoses, an Update.
Int J Mol Sci;
21(7)2020 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32260444
6.
microRNAs as biomarkers in Pompe disease.
Genet Med;
21(3): 591-600, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29997386
7.
Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.
J Immunol;
198(10): 3803-3808, 2017 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28389590
8.
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1.
Neurol Sci;
45(6): 2913-2914, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38286917
9.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Mol Genet Metab;
123(3): 337-346, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29397290
10.
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
11.
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
J Inherit Metab Dis;
41(6): 985-995, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29435782
12.
Cervical spondylolisthesis in mucopolysaccharidosis type II.
Neurol Sci;
44(1): 409-410, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36006554
13.
Lysosomal storage diseases: from pathophysiology to therapy.
Annu Rev Med;
66: 471-86, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25587658
14.
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study.
Echocardiography;
34(2): 240-249, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28070903
15.
Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.
Mol Ther;
23(7): 1138-1148, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25881001
16.
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy.
Genet Med;
22(7): 1178-1180, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32409735
17.
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study.
J Pediatr;
166(4): 1079-82, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25641239
18.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Mol Ther;
22(11): 2004-12, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25052852
19.
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Pediatr Radiol;
45(7): 965-76, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25646736
20.
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.
Mol Ther;
20(12): 2201-11, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22990675