De O. Poswar

Porto Alegre, RS, Brazil

Last Updated: 09/26/2026

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Found 18 publications

Fabry disease cardiomyopathy: A practical guide for cardiologists.

Fabry disease cardiomyopathy: A practical guide for cardiologists.

Journal: Current problems in cardiology
Published: January 06, 2026

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

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

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.

Journal: Molecular genetics and metabolism reports
Published: January 31, 2025

Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score.

Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score.

Journal: Molecular genetics and metabolism
Published: October 13, 2024

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

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.

Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Journal: Genetics and molecular biology
Published: October 04, 2023

Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.

Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.

Journal: Journal of neuromuscular diseases
Published: October 02, 2023

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).

Journal: Therapeutics and clinical risk management
Published: July 31, 2022

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy.

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy.

Journal: Frontiers in cardiovascular medicine
Published: October 24, 2021

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.

Journal: Psychiatric genetics
Published: August 04, 2021

Cardiovascular findings in classic homocystinuria.

Cardiovascular findings in classic homocystinuria.

Journal: Molecular genetics and metabolism reports
Published: November 01, 2020

Clinical trials for genetic diseases in Latin America.

Clinical trials for genetic diseases in Latin America.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 30, 2020
Showing 1-12 of 18

Last Updated: 09/26/2026