Aída Lemes
Agencia Nacional de Investigación e Innovación(UY)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Diet and metabolism studies
Most-Cited Works
- → Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy(2018)88 cited
- → Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America(2014)53 cited
- → Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey(2021)21 cited
- → Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease(2021)19 cited
- → 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease(2016)14 cited
- → Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family(2006)8 cited
- Errores congénitos del metabolismo(2003)
- Muerte inesperada del lactante: Diagnóstico de situación en la ciudad de Montevideo(2001)
- → Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessive disorder(2000)4 cited