Detalhe da pesquisa
1.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
J Paediatr Child Health
; 57(4): 519-525, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377563
2.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
3.
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Mol Genet Metab Rep
; 38: 101060, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469103
4.
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
Mol Syndromol
; 14(5): 416-427, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37901859
5.
Super-refractory status epilepticus related to COVID-19 in a paediatric patient with PRRT2 mutation.
Epileptic Disord
; 23(6): 951-953, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668859
6.
Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
J. inborn errors metab. screen
; 8: e20200012, 2020. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1143187