I. Ferrer-López

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

C. Pérez-Cerdá, R. Artuch, P. Ruiz-Sala, 2017 .

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2014, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2018, JIMD reports.

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

M. Ugarte, B. Pérez, C. Pedrón‐Giner, 2022, Journal of clinical medicine.

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.

Enrique Rodríguez-García, R. Yahyaoui, Carmen Benito, 2019, Journal of AAPOS.