Sergia Soares
Matosinhos, Portugal
Last Updated: 09/26/2026
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Found 9 publications
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
Harlequin syndrome in children: secondary until proven otherwise.
Journal: BMJ case reports
Published: October 12, 2023
Cerebral venous thrombosis in adolescence: Looking beyond the obvious.
Journal: International journal of pediatrics & adolescent medicine
Published: March 31, 2022
Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.
Journal: Neuro-ophthalmology (Aeolus Press)
Published: March 25, 2021
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Journal: Orphanet journal of rare diseases
Published: May 24, 2020
The role of nt590 P21 gene polymorphism in the susceptibility to nasopharyngeal cancer.
Journal: Experimental oncology
Published: April 03, 2014
Rib osteomyelitis in a pediatric patient case report and literature review.
Journal: The Pediatric infectious disease journal
Published: July 05, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026