Patrícia Lipari Pinto

7PUBLICATIONS
29CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Medical biochemistry - amino acids and metabolitesInorganic geochemistryInfant and child healthClinical nutrition
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Publications (7)

|Sep 22, 2025
Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.

Carolina Ramos, Inês Pereira, Joana Coelho

|Nov 08, 2024
Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.

Patrícia Lipari Pinto, Marjorie Dixon, Sniya Sudhakar

|Jan 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau

|Sep 15, 2023
Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.

Patrícia Lipari Pinto, Beatriz Câmara, Cristina Florindo

|Oct 27, 2022
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.

Patrícia Lipari Pinto, Cristina Florindo, Patrícia Janeiro

|Aug 05, 2022
Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit.

Patrícia Lipari, Zakhar Shchomak, Leonor Boto

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Frequent Collaborators

1 joint publications

Leonor Boto

1 joint publications

Oana Moldovan

1 joint publications

Francisco Abecasis

1 joint publications

Cristina Florindo