Detalhe da pesquisa
1.
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
2.
Communicating a Positive Result at Newborn Screening and Parental Distress.
Int J Neonatal Screen
; 9(3)2023 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489491
3.
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
4.
Incidence of Sudden Unexpected Postnatal Collapse in the Therapeutic Hypothermia Era.
Am J Perinatol
; 34(13): 1362-1367, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28571078
5.
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Orphanet J Rare Dis
; 16(1): 413, 2021 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627336
6.
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
J Clin Med
; 10(10)2021 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065803