Detalhe da pesquisa
1.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Am J Med Genet A
; 191(7): 1917-1922, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009750
2.
Newborn screening of mucopolysaccharidosis type I.
Crit Rev Clin Lab Sci
; 59(4): 257-277, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037566
3.
Nutrition in adult patients with selected lysosomal storage diseases.
Nutr Metab Cardiovasc Dis
; 31(3): 733-744, 2021 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33589321
4.
Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.
J Inherit Metab Dis
; 43(4): 748-757, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31950508
5.
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Clin Chem Lab Med
; 58(12): 2063-2072, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32432561
6.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
J Inherit Metab Dis
; 42(1): 93-106, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740724
7.
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
Clin Chem Lab Med
; 57(12): 1863-1874, 2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31091195
8.
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
J Inherit Metab Dis
; 41(2): 209-219, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143201
9.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330779
10.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 41(4): 741-742, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234995
11.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788986
12.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis
; 40(2): 171-176, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858262
13.
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
Clin Chem Lab Med
; 55(3): 403-414, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27533120
14.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 39(5): 661-672, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106216
15.
Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 39(3): 341-353, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26689403
16.
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
Eur J Pediatr
; 175(8): 1123-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26847429
17.
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Am J Hum Genet
; 90(6): 1079-87, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608499
18.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
19.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875215
20.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875216