Detalhe da pesquisa
1.
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.
Mol Genet Metab
; 142(1): 108151, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522180
2.
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
3.
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Mol Genet Metab
; 133(1): 56-62, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33744095
4.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Mol Genet Metab
; 131(1-2): 155-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651154
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.
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.
JIMD Rep
; 65(2): 56-62, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444575
7.
Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
J Pediatr Endocrinol Metab
; 36(9): 873-878, 2023 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37427576
8.
Newborn Screening for Fabry Disease: Current Status of Knowledge.
Int J Neonatal Screen
; 9(2)2023 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37367212
9.
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.
J Clin Med
; 12(6)2023 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983365
10.
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
Int J Neonatal Screen
; 10(1)2023 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248631
11.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Orphanet J Rare Dis
; 18(1): 358, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974207
12.
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature.
Mol Genet Metab Rep
; 31: 100878, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782619
13.
Bone disease in early detected Gaucher Type I disease: A case report.
JIMD Rep
; 63(5): 414-419, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36101816
14.
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Mol Genet Metab Rep
; 33: 100929, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36310651
15.
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.
Nutrients
; 12(7)2020 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32674279
16.
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
Int J Neonatal Screen
; 6(4)2020 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147872
17.
Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.
Nutrients
; 11(10)2019 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31640267
18.
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Int J Neonatal Screen
; 5(2): 24, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072983
19.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Sci Rep
; 9(1): 9128, 2019 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235756
20.
Etiology, characteristics and outcome of seizures after pediatric hematopoietic stem cell transplantation.
Seizure
; 23(2): 140-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24287078