Detalhe da pesquisa
1.
Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.
Mol Genet Metab;
142(1): 108444, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38555683
2.
18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.
Am J Med Genet A;
191(2): 564-569, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36333985
3.
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis.
Am J Med Genet A;
191(7): 1948-1952, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37045799
4.
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Eur J Pediatr;
178(5): 739-753, 2019 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30809705
5.
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
BMC Med Genet;
17: 19, 2016 Mar 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26965916
6.
Human milk glycosaminoglycans inhibit in vitro the adhesion of Escherichia coli and Salmonella fyris to human intestinal cells.
Pediatr Res;
79(4): 603-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26679156
7.
Capillary electrophoresis separation of human milk neutral and acidic oligosaccharides derivatized with 2-aminoacridone.
Electrophoresis;
35(6): 811-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24338619
8.
Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience.
Am J Med Genet A;
164A(12): 3042-51, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25255904
9.
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient.
Glycoconj J;
30(7): 727-32, 2013 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23512580
10.
On-line high-performance liquid chromatography-fluorescence detection-electrospray ionization-mass spectrometry profiling of human milk oligosaccharides derivatized with 2-aminoacridone.
Anal Biochem;
430(1): 97-104, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22885238
11.
A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.
Ital J Pediatr;
48(1): 39, 2022 Mar 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35246226
12.
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
Orphanet J Rare Dis;
17(1): 251, 2022 06 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35768874
13.
High-throughput determination of urinary hexosamines for diagnosis of mucopolysaccharidoses by capillary electrophoresis and high-performance liquid chromatography.
Anal Biochem;
411(1): 32-42, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21156153
14.
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
J Inherit Metab Dis;
34(3): 763-80, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21465231
15.
Oligosaccharides in 4 different milk groups, Bifidobacteria, and Ruminococcus obeum.
J Pediatr Gastroenterol Nutr;
53(1): 80-7, 2011 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21478759
16.
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
17.
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
Clin Chem Lab Med;
53(7): e157-60, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25565547
18.
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.
JIMD Rep;
55(1): 15-21, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32905047
19.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
J Clin Med;
9(3)2020 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32138288
20.
Resovist enhanced MR imaging of the liver: does quantitative assessment help in focal lesion classification and characterization?
J Magn Reson Imaging;
30(5): 1012-20, 2009 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19856433