Detalhe da pesquisa
1.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis;
44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33190319
2.
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
Am J Med Genet A;
179(1): 78-84, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30513135
3.
Association of pediatric idiopathic intracranial hypertension with olfactory performance.
Eur J Paediatr Neurol;
30: 162-169, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33129661
4.
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency.
JIMD Rep;
56(1): 9-13, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33204590
5.
Atypical Clinical Presentations of Pediatric Acute Immune-Mediated Polyneuropathy.
J Child Neurol;
34(5): 268-276, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30674221