Carolina Fischinger Moura de Souza

15PUBLICATIONS
77CO-AUTHORS
Developmental genetics (incl. sex determination)NanomedicineMedical biochemistry - amino acids and metabolitesMedical bacteriologyFood properties (incl. characteristics and health benefits)
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Publications (15)

|Aug 25, 2026
Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

|Apr 29, 2026
From Diagnosis to Execution: A National Plan Proposal to Redesign Clinical Research in Brazil to Improve Cancer Care and Innovation Access.

|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

|Jun 13, 2025
Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool.

Bárbara Cristina Pezzi Sartor, Bibiana Mello de Oliveira, Katia Irie Teruya

|May 09, 2025
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.

Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior

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Frequent Collaborators

8 joint publications

Roberto Giugliani

4 joint publications

Erlane Marques Ribeiro

3 joint publications

Guilherme Baldo

3 joint publications

Augusto César Cardoso-Dos-Santos