Detalhe da pesquisa
1.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185710
2.
Morquio B disease: From pathophysiology towards diagnosis.
Mol Genet Metab
; 132(3): 180-188, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558080
3.
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
4.
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1105-1117, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056765
5.
Chronic liver involvement in urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1118-1127, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260111
6.
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Metab Brain Dis
; 34(5): 1515-1518, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267348
7.
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Int J Mol Sci
; 20(5)2019 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836598
8.
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
9.
Hepatocellular carcinoma in Gaucher disease: an international case series.
J Inherit Metab Dis
; 41(5): 819-827, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423829
10.
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
11.
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
12.
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
J Hepatol
; 61(4): 891-902, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842304
13.
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Clin Dysmorphol
; 33(1): 1-8, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37791705
14.
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
15.
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including A Novel Complex Rearrangement.
Nephron
; 2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231942
16.
A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals.
iScience
; 26(10): 107629, 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37731612
17.
CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
Front Immunol
; 13: 1011580, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793547
18.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Hum Mutat
; 32(6): E2189-210, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21394825
19.
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Clin Epigenetics
; 13(1): 137, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215320
20.
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
J Inherit Metab Dis
; 33(6): 727-35, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838899