Detalhe da pesquisa
1.
The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion.
Mol Genet Metab
; 136(2): 94-100, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589496
2.
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
3.
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
Int J Mol Sci
; 19(2)2018 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364180
4.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
J Med Genet
; 58(8): 543-546, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135091
5.
Management of methylmalonic acidemia (MMA) with N-carbamylglutamate: A case report from Italy.
Mol Genet Genomic Med
; 11(1): e2073, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331064
6.
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Eur J Med Genet
; 66(8): 104808, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37391029
7.
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
Front Pharmacol
; 13: 869842, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652051
8.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487232
9.
Italian national consensus statement on management and pharmacological treatment of phenylketonuria.
Orphanet J Rare Dis
; 16(1): 476, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34784942
10.
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
J Clin Med
; 10(15)2021 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34362006
11.
SARS-CoV-2 infection in a patient with propionic acidemia.
Orphanet J Rare Dis
; 15(1): 306, 2020 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115512
12.
Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.
Neuromuscul Disord
; 29(1): 67-69, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30553701
13.
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 270(4): 2345-2346, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795150
14.
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Front Neurol
; 9: 981, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564185
15.
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 451, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652506