Detalhe da pesquisa
1.
Hypoglycemia in a Pediatric Emergency Department: Single-Center Experience on 402 Children.
Pediatr Emerg Care
; 38(1): e404-e409, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33273431
2.
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
J Inherit Metab Dis
; 44(3): 705-717, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325062
3.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Am J Med Genet A
; 182(1): 64-70, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729175
4.
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
J Inherit Metab Dis
; 43(6): 1173-1185, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681732
5.
microRNAs as biomarkers in Pompe disease.
Genet Med
; 21(3): 591-600, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997386
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.
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.
J Pediatr
; 202: 272-278.e4, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193751
8.
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Muscle Nerve
; 55(6): 841-848, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668838
9.
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
10.
Evaluation of plasma cholestane-3ß,5α,6ß-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.
J Lipid Res
; 57(3): 361-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733147
11.
Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.
Eur J Pediatr
; 173(10): 1391-4, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24844354
12.
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.
Pediatr Diabetes
; 14(5): 384-7, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23289844
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.
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
Orphanet J Rare Dis
; 15(1): 329, 2020 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228748
15.
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Clin Chim Acta
; 486: 387-394, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30153451
16.
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Orphanet J Rare Dis
; 13(1): 32, 2018 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422078
17.
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Atherosclerosis
; 265: 124-132, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881270
18.
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Clin Chim Acta
; 471: 95-100, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28526534
19.
A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
Clin Chim Acta
; 437: 93-100, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25038260
20.
Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy.
Neurology
; 91(12): 565-567, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120134