Isabel Almeida-De

Lisbon, Portugal

Last Updated: 09/26/2026

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Found 25 publications

Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines.

Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: August 31, 2023

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

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

Journal: Endocrine, metabolic & immune disorders drug targets

Published: July 14, 2023

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

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

Journal: Nutrients

Published: September 10, 2022

No Effect of Diet-Induced Mild Hyperhomocysteinemia on Vascular Methylating Capacity, Atherosclerosis Progression, and Specific Histone Methylation.

No Effect of Diet-Induced Mild Hyperhomocysteinemia on Vascular Methylating Capacity, Atherosclerosis Progression, and Specific Histone Methylation.

Journal: Nutrients

Published: June 06, 2020

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

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

Adult-onset methylenetetrahydrofolate reductase deficiency.

Adult-onset methylenetetrahydrofolate reductase deficiency.

Journal: BMJ case reports

Published: March 13, 2020

Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions.

Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions.

Journal: Nutrients

Published: January 28, 2019

The Contribution of Homocysteine Metabolism Disruption to Endothelial Dysfunction: State-of-the-Art.

The Contribution of Homocysteine Metabolism Disruption to Endothelial Dysfunction: State-of-the-Art.

Journal: International journal of molecular sciences

Published: January 18, 2019

The European Phenylketonuria Guidelines and the challenges on management practices in Portugal.

The European Phenylketonuria Guidelines and the challenges on management practices in Portugal.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 10, 2018

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Journal: European journal of pediatrics

Published: October 20, 2018

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells.

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells.

Journal: Nutrients

Published: January 06, 2018

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 07, 2017

Showing 1-12 of 25

Last Updated: 09/26/2026