Claudia F. Lorea

Porto Alegre, RS, Brazil

Last Updated: 09/26/2026

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Found 14 publications

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

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

Journal: JIMD reports

Published: November 13, 2025

Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil.

Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil.

Journal: BMC cardiovascular disorders

Published: August 10, 2025

Clinical and genetic features of Classic Galactosemia in the south of Brazil.

Clinical and genetic features of Classic Galactosemia in the south of Brazil.

Journal: Molecular genetics and metabolism

Published: April 30, 2025

Infections during pregnancy: An ongoing threat.

Infections during pregnancy: An ongoing threat.

Journal: Seminars in perinatology

Published: January 04, 2025

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 23, 2024

Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.

Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.

Journal: Journal of community genetics

Published: July 08, 2024

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Published: February 29, 2024

Efficacy of empagliflozin for weight and glycemic control of a patient with Prader-Willi syndrome, systemic lymphedema and extreme obesity: a case report.

Efficacy of empagliflozin for weight and glycemic control of a patient with Prader-Willi syndrome, systemic lymphedema and extreme obesity: a case report.

Journal: International journal of diabetes in developing countries

Published: August 10, 2021

McCune-Albright syndrome - A case report with transmission electron microscopy.

McCune-Albright syndrome - A case report with transmission electron microscopy.

Journal: Anais brasileiros de dermatologia

Published: May 28, 2021

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: May 04, 2021

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 10, 2020

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Journal: Cerebellum (London, England)

Published: March 09, 2020

Showing 1-12 of 14

Last Updated: 09/26/2026