Roberto Giugliani

59PUBLICATIONS
141CO-AUTHORS
Medical infection agents (incl. prions)Infant and child healthImmunogenetics (incl. genetic immunology)Medical biochemistry - amino acids and metabolitesMedical bacteriology
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Publications (59)

|Jun 30, 2026
Variant profile of Brazilian patients with Sanfilippo syndrome type B.

|May 15, 2026
Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.

|Mar 28, 2026
Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I.

Hallana Souza Santos, Edina Poletto, Luisa Natalia Pimentel Vera

|Jan 28, 2026
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

Roberto Giugliani, Ana Cecília Menezes de Siqueira, Ana Maria Martins

|Jan 27, 2026
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Yorran Hardman Araújo Montenegro, Maria Fernanda Antero Alves, Simone Silva Dos Santos-Lopes

|Dec 04, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.

Barbara K Burton, Hernan Amartino, Roberto Giugliani

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Frequent Collaborators

11 joint publications

Francyne Kubaski

10 joint publications

Guilherme Baldo

8 joint publications

Carolina Fischinger Moura de Souza

5 joint publications

Yorran Hardman Araújo Montenegro