Fabiano Poswar

11PUBLICATIONS
71CO-AUTHORS
Medical biochemistry - inorganic elements and compoundsMedical bacteriologyGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMedical infection agents (incl. prions)
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Publications (11)

|Apr 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-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

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Frequent Collaborators

5 joint publications

Francyne Kubaski

4 joint publications

Filippo Vairo

4 joint publications

Roberto Giugliani

3 joint publications

Guilherme Baldo