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Data in Brief|September 23, 2016
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a familyAna Pinheiro, Maria João Silva, Hana Pavlu-Pereira, et al.Gene|June 26, 2016
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cellsAna Pinheiro, Maria João Silva, Hana Pavlu-Pereira, et al.Microbiology and Immunology|July 25, 2012
Photo-inactivation of Bacillus endospores: inter-specific variability of inactivation efficiencyRaquel N da Silva, Augusto C Tomé, João P C Tomé, et al.Molecular Genetics and Metabolism Reports|March 12, 2024
Natural history of three late-diagnosed classic Galactosemia patientsDulce Quelhas, Sandra D K Kingma, An I Jonckheere, et al.Orphanet Journal of Rare Diseases|October 23, 2020
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patientsHana Pavlu-Pereira, Maria João Silva, Cristina Florindo, et al.Journal of Inherited Metabolic Disease|June 11, 2013
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in PortugalAna I Coelho, Ruben Ramos, Ana Gaspar, et al.Sensors (Basel, Switzerland)|February 15, 2022
Multispectral Optical Remote Sensing for Water-Leak DetectionJean-Claude Krapez, Javier Sanchis Muñoz, Christophe Mazel, et al.The Journal of Pediatrics|December 19, 2020
Congenital Disorders of Glycosylation in Portugal-Two Decades of ExperienceDulce Quelhas, Esmeralda Martins, Luísa Azevedo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.Pageof 3