Paula Sánchez-Pintos

12PUBLICATIONS
97CO-AUTHORS
Neurology and neuromuscular diseasesFood properties (incl. characteristics and health benefits)Infant and child healthMedical genetics (excl. cancer genetics)Medical biochemistry - lipids
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Publications (12)

|Jun 25, 2026
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

|Mar 14, 2026
Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

Elsa Izquierdo-García, Edorta Mora, Dolores García-Arenas

|Oct 29, 2025
Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.

Everardo Josué Díaz-López, Antia Fernández-Pombo, Álvaro Hermida-Ameijeiras

|Apr 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Elena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand

|Mar 27, 2025
Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Eines Monteagudo-Vilavedra, Daniel Rodrigues, Giorgia Vella

|Jan 08, 2025
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Javier de Las Heras, Carolina Almohalla, Javier Blasco-Alonso

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Frequent Collaborators

11 joint publications

Maria-Luz Couce

5 joint publications

Javier de Las Heras Montero

4 joint publications

Elvira Cañedo-Villarroya

4 joint publications

Luis Peña-Quintana