Moura D. Souza
Porto Alegre, RS 91501970, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 17 publications
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.
Journal: Diseases (Basel, Switzerland)
Published: October 28, 2025
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.
Journal: Journal of clinical medicine
Published: September 26, 2025
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.
Journal: Arquivos de neuro-psiquiatria
Published: May 09, 2025
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Journal: Molecular genetics and metabolism
Published: May 02, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Journal: Genetics and molecular biology
Published: October 04, 2023
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions.
Journal: The journal of allergy and clinical immunology. In practice
Published: December 14, 2020
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Journal: Genetics and molecular biology
Published: August 11, 2020
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Journal: Jornal de pediatria
Published: February 18, 2019
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Journal: Genetics and molecular biology
Published: August 01, 2018
Lysosomal diseases: Overview on current diagnosis and treatment.
Journal: Genetics and molecular biology
Published: June 15, 2018
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Journal: Genetics and molecular biology
Published: April 26, 2018
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Journal: Arquivos de neuro-psiquiatria
Published: June 17, 2016
Last Updated: 09/26/2026