Publications by Rita Santos Loureiro

Publications by authors named "Rita Santos Loureiro"

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Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.

Patrícia Lipari Pinto Beatriz Câmara Cristina Florindo Rita Santos Loureiro Inês Jardim

Endocr Metab Immune Disord Drug Targets

September 2023

Introduction: Glutaric acidemia type 1 (GA1) is a rare autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase, resulting in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid, and glutarylcarnitine, especially in the brain. GA1-affected children are clinically characterized by macrocephaly. Neurological abnormalities usually appear between 6 and 18 months of age, often triggered by a catabolic event.

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- Rita Santos Loureiro's recent research focuses on Glutaric Acidemia Type 1, a rare genetic disorder that leads to the buildup of toxic compounds in the brain, particularly impacting neurological development in children.
- Her article examines the diagnosis, clinical features, and long-term outcomes of affected children within a Portuguese cohort, highlighting the significance of timely detection and intervention.
- The study provides insights into the clinical manifestations of GA1, emphasizing early neurological abnormalities, such as macrocephaly, which often present between 6 to 18 months of age following metabolic stress events.

Publications by authors named "Rita Santos Loureiro"

Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.

Synopsis of recent research by authors named "Rita Santos Loureiro"