Abraham J. Fuentes-Paredes

Barcelona, CT 08036, Spain

Last Updated: 09/26/2026

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Found 19 publications

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

Journal: International journal of molecular sciences

Published: June 04, 2026

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

Journal: Frontiers in immunology

Published: February 03, 2026

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Journal: Brain communications

Published: January 13, 2025

Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.

Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.

Journal: International journal of neonatal screening

Published: August 27, 2024

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.

Journal: Antioxidants (Basel, Switzerland)

Published: June 21, 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

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Journal: Brain : a journal of neurology

Published: October 02, 2023

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.

Journal: European journal of human genetics : EJHG

Published: July 05, 2023

Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.

Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.

Journal: Clinical chemistry and laboratory medicine

Published: February 28, 2023

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation.

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation.

Journal: International journal of neonatal screening

Published: February 15, 2023

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up.

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up.

Journal: Critical reviews in clinical laboratory sciences

Published: January 25, 2023

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Journal: Brain pathology (Zurich, Switzerland)

Published: August 22, 2022

Showing 1-12 of 19

Last Updated: 09/26/2026