Publicações
Publicado em
16/11/2020 12h55
Atualizado em
30/01/2023 11h21
2020
2018
- SCIENTIFIC REPORTS - A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
- JOURNAL OF INHERITED METABOLIC DISEASE - Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease
- ELSEVIER - Spectrum of GALNS mutations and haplotype study in Brazilian patients
with Mucopolysaccharidosis type IVA - WILEY - Molecular characterization of a large group of Mucopolysaccharidosis type IIIC atients reveals the evolutionary history of the disease