Patricia C. Janeiro

Santa Maria, Portugal

Last Updated: 09/26/2026

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Found 29 publications

A Rare Radiologic Combination in Glutaric Aciduria Type 1.

A Rare Radiologic Combination in Glutaric Aciduria Type 1.

Journal: Journal of child neurology

Published: May 04, 2026

Palliative Care Approach in a Case of Severe Nonketotic Hyperglycinemia With Long Survival: A Case Report.

Palliative Care Approach in a Case of Severe Nonketotic Hyperglycinemia With Long Survival: A Case Report.

Journal: Cureus

Published: September 04, 2025

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

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.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management.

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management.

Journal: Acta medica portuguesa

Published: March 09, 2025

Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood.

Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood.

Journal: Frontiers in pediatrics

Published: September 06, 2024

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

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

Journal: Frontiers in cell and developmental biology

Published: October 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

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.

Journal: Genes

Published: June 26, 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

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Journal: International journal of molecular sciences

Published: September 05, 2022

Showing 1-12 of 29

Last Updated: 09/26/2026