Patricia Alcaide
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 10 publications
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.
Journal: European journal of human genetics : EJHG
Published: July 16, 2025
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Journal: International journal of molecular sciences
Published: September 15, 2022
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.
Journal: Antioxidants (Basel, Switzerland)
Published: July 29, 2022
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Journal: Journal of clinical medicine
Published: March 21, 2022
Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method.
Journal: Antioxidants (Basel, Switzerland)
Published: January 24, 2022
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Journal: Orphanet journal of rare diseases
Published: January 20, 2021
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Journal: JIMD reports
Published: March 13, 2017
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: August 08, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
Journal: Human mutation
Published: November 13, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026