Showing results (81-90 of 102) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Revista Espanola De Salud Publica|December 16, 2020
[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]Ana Argudo Ramírez, Andrea Martín Nalda, José Luis Marín Soria, et al.
Human Mutation|May 7, 2019
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyFrederic Tort, Olatz Ugarteburu, Laura Texidó, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Journal of Clinical Medicine|January 10, 2026
Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical ExperienceAida Deudero, Esther Lasheras, Roser Ventura, et al.
Human Mutation|January 30, 2009
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduriaSebastián Menao, Eduardo López-Viñas, Cecilia Mir, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Orphanet Journal of Rare Diseases|May 1, 2021
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newbornsSonia Pajares, Jose Antonio Arranz, Aida Ormazabal, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Annals of Neurology|September 4, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions DiseaseAgustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon, et al.
Pageof 11