Detalhe da pesquisa
1.
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
Mol Genet Metab
; 133(2): 193-200, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962822
2.
Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
Am J Med Genet A
; 185(1): 223-227, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33078527
3.
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Am J Med Genet A
; 182(5): 1201-1208, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32100459
4.
Evaluation of biomarkers for Sanfilippo syndrome.
Mol Genet Metab
; 128(1-2): 68-74, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104888
5.
Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.
Mol Genet Metab
; 124(2): 131-134, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735373
6.
General anesthesia with a native airway for patients with mucopolysaccharidosis type III.
Paediatr Anaesth
; 27(4): 370-376, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28181359
7.
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.
Clin Case Rep
; 10(2): e05277, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169466
8.
An Infant with Thickened and Hyperechoic Main Pulmonary Artery.
Neoreviews
; 24(12): e814-e818, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38036445
9.
Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy.
Hum Gene Ther Clin Dev
; 28(4): 187-196, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29064732