Paula Pintos-Sanchez

Santiago De Compostela, GA 15706, Spain

Last Updated: 09/26/2026

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Found 34 publications

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Journal: International journal of neonatal screening

Published: February 02, 2026

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Journal: Nutrients

Published: January 16, 2026

Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients.

Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients.

Journal: Clinical nutrition (Edinburgh, Scotland)

Published: October 16, 2025

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.

Journal: Nutrients

Published: September 09, 2025

Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.

Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.

Journal: European journal of pediatrics

Published: March 20, 2025

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Journal: Nutrients

Published: March 06, 2025

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Journal: International journal of molecular sciences

Published: January 28, 2025

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Journal: Nutrients

Published: October 16, 2024

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria.

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria.

Journal: MedComm

Published: October 11, 2024

New variants expand the neurological phenotype of COQ7 deficiency.

New variants expand the neurological phenotype of COQ7 deficiency.

Journal: Journal of inherited metabolic disease

Published: March 30, 2024

Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population.

Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population.

Journal: Archives of pathology & laboratory medicine

Published: March 21, 2024

Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders.

Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders.

Journal: International journal of pharmaceutics

Published: March 08, 2024

Showing 1-12 of 34

Last Updated: 09/26/2026