Profil bibliographique

Luísa Diogo

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

122Publications signalées

2969Citations signalées

4Affiliations récentes

Institutions déclarées

Administração Regional de Saúde de Lisboa e Vale do Tejo IPO Porto Centro de Referência em Informação Ambiental University of Coimbra

Domaines associés

Metabolism and Genetic DisordersMitochondrial Function and PathologyNeonatal Health and BiochemistryFolate and B Vitamins ResearchLysosomal Storage Disorders Research

Publications récentes

Accès ouvert 2025 articleOpenAlex

Lipidomic Profiling of Red Blood Cells in the Mitochondrial Fatty Acid β-oxidation Disorder MCADD Reveals Phospholipid and Sphingolipid Dysregulation

Inês M. S. Guerra, Helena Beatriz Ferreira, Luísa Diogo, Sónia Moreira et autres

3 citationsJournal of Proteome Research

Accès ouvert 2025 articleOpenAlex

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1

Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, Luísa Diogo et autres

0 citationsJIMD Reports

2025 conference-paperOpenAlex

Cost-utility and clinical impact of endoscopic screening for gastro-esophageal neoplasia in patients with head and neck neoplasms

Rui M. S. C. Morais, Nélson Sousa, João Afonso, Bernardo Sousa‐Pinto et autres

0 citationsEndoscopy

Accès ouvert 2024 articleOpenAlex

Epilepsy and Cognition in GM2-Gangliosidosis B1 Variant – Experience of a Tertiary Hospital

Mariana M. Anjos, Sara Ferreira, Luísa Diogo, Joana Almeida et autres

0 citationsSVOA Paediatrics

Accès ouvert 2024 articleOpenAlex

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte et autres

2 citationsInternational Journal of Molecular Sciences

Accès ouvert 2024 preprintOpenAlex

Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte et autres

1 citationPreprints.org

Accès ouvert 2024 articleOpenAlex

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study

Célia Nogueira, Cristina Pereira, L. O. Silva, Mateus Laranjeira et autres

11 citationsFrontiers in Cell and Developmental Biology

Accès ouvert 2024 articleOpenAlex

Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency

Inês M. S. Guerra, Helena Beatriz Ferreira, Tatiana Maurício, Marisa Pinho et autres

8 citationsJournal of Inherited Metabolic Disease

2023 articleOpenAlex

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?

Marta Simões, Maria João Santos, Sara Martins, Carmo Macário et autres

2 citationsEndocrine Metabolic & Immune Disorders - Drug Targets

Accès ouvert 2023 articleOpenAlex

Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment

Rui Diogo, Luísa Diogo, R Serra, Joana Almeida et autres

5 citationsCureus

2023 articleOpenAlex

Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses

Sofia Carvalho, Luciana Moreira, Juliana Inês Santos, Paulo Gaspar et autres

1 citationEndocrine Metabolic & Immune Disorders - Drug Targets

2023 articleOpenAlex

Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?

Joana Pereira Mendes, Andréia Nogueira, Ema Grilo, Sara Ferreira et autres

2 citationsEndocrine Metabolic & Immune Disorders - Drug Targets

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