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Molecular Genetics & Genomic Medicine|January 24, 2015
Functional and structural impact of the most prevalent missense mutations in classic galactosemiaAna I Coelho, Matilde Trabuco, Ruben Ramos, et al.Molecular Genetics and Metabolism|December 17, 2009
Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activityAna Pinheiro, Inês Faustino, Maria João Silva, et al.Gene|July 4, 2012
Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesisAna Pinheiro, Maria João Silva, Inês Graça, et al.Transplantation Proceedings|April 29, 2022
Spleen-Restricted Posttransplant Lymphoproliferative Disorder in the First Year After Kidney Transplant - A Case ReportAna Cunha Rodrigues, Sara Fernandes, Manuela Bustorff, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 30, 2019
The European Phenylketonuria Guidelines and the challenges on management practices in PortugalCátia Sousa, Manuela Ferreira Almeida, Catarina Sousa Barbosa, et al.Nutrients|October 27, 2022
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early DetectionPatrícia Lipari Pinto, Cristina Florindo, Patrícia Janeiro, et al.European Journal of Case Reports in Internal Medicine|January 2, 2020
Cardiac Amyloidosis Associated with Apolipoprotein A-IV Deposition Diagnosed by Mass Spectrometry-Based Proteomic AnalysisElisabete Martins, Joana Urbano, Sérgio Leite, et al.Pediatric Neurology|April 22, 2009
Pediatric mitochondrial respiratory chain disorders in the Centro region of PortugalLuísa Diogo, Manuela Grazina, Paula Garcia, et al.Journal of Inherited Metabolic Disease|October 25, 2013
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligasesPaula B M Luís, Jos Ruiter, Lodewijk IJlst, et al.Clinical Chemistry and Laboratory Medicine|October 29, 2010
Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methodsMonica S Rocha, Rita Castro, Isabel Rivera, et al.Pageof 12