Fabiano Poswar
11PUBLICATIONS
71CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (11)
Sort by Publication Date:
|Apr 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported <i>UQCRC2</i>-Associated Phenotype.Graeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo
|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
|Mar 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.Stefan Groeneweg, Ferdy S van Geest, Mariano Martín
|Apr 09, 2024
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar
|Mar 15, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patients.Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp
|Mar 13, 2024
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti
Pageof 2
Frequent Collaborators
5 joint publications
Francyne Kubaski
4 joint publications
Filippo Vairo
4 joint publications
Roberto Giugliani
3 joint publications
Guilherme Baldo
2 joint publications
Carolina Fischinger Moura de Souza
2 joint publications
Mariluce Riegel-Giugliani
2 joint publications
Erlane Marques Ribeiro
2 joint publications
Yorran Hardman Araújo Montenegro
1 joint publications
Maira Graeff Burin
1 joint publications
Diana Rojas-Málaga
