Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase

Investigador: Ana Paula Peralta Leandro
Instituição: Faculdade Farmácia, Universidade de Lisboa, Lisboa, Portugal

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Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection

Investigador: Patrícia Lipari Pinto
Instituição: Hereditary Metabolic Disease Reference Center, Metabolic Unit, Pediatric Department, Santa Maria’s Hospital-Lisbon North University Hospital Center, EPE, Pediatric University Clinic,Faculty of Medicine, University of Lisbon, 1600-190 Lisbon, Portugal

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MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

Investigador: Sandra Jacinto
Instituição: Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal | Serviço de Neurologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central-EPE, Lisboa, Portugal

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Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation—Molecular Insights into Potential Beneficial Efects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients, Int. J. Mol. Sci. 2020, 21, 7063.

Investigador: Bárbara Henriques
Instituição: Faculdade de Ciências Universidade de Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Lisbon, Portugal

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