Detalhe da pesquisa
1.
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
J Public Health (Oxf)
; 44(3): 586-594, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33982102
2.
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
3.
Lysosomal storage diseases: from pathophysiology to therapy.
Annu Rev Med
; 66: 471-86, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25587658
4.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis
; 40(1): 49-74, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27778219
5.
The contribution of the citrate pathway to oxidative stress in Down syndrome.
Immunology
; 149(4): 423-431, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27502741
6.
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
7.
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Am J Hum Genet
; 90(1): 161-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243968
8.
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
9.
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
10.
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
11.
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Am J Hum Genet
; 89(6): 767-72, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152678
12.
Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues.
Mol Genet Metab
; 113(1-2): 27-33, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087163
13.
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
BMC Med Genet
; 15: 15, 2014 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24472332
14.
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Am J Med Genet A
; 164A(3): 753-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357330
15.
Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.
Pediatr Blood Cancer
; 61(11): 1905-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131373
16.
Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool.
Mol Genet Metab
; 110(1-2): 25-34, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23920043
17.
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
18.
Minimal disease activity in Gaucher disease: criteria for definition.
Mol Genet Metab
; 107(3): 521-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22954583
19.
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
Am J Med Genet A
; 158A(4): 832-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407589
20.
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
J Inherit Metab Dis
; 35(3): 513-20, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187137