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Journal of Community Genetics|January 10, 2025
Newborn screening in Brazil: realities and challengesCarolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, et al.
JIMD Reports|September 23, 2018
Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage DiseasesChenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, et al.
JIMD Reports|November 8, 2024
Olfactory and gustatory perception in Brazilian PKU patients: A cross-sectional studyTássia Tonon, Chenia Martinez, Tatiele Nalin, et al.
Codas|October 4, 2023
Feeding difficulties in patients with PhenylketonuriaAlexia Diovana Fernandes da Rocha, Chenia Caldeira Martinez, Lilia Farret Refosco, et al.
Genetics and Molecular Biology|April 9, 2024
Homocysteine and methylmalonic acid in Phenylketonuria patientsGiovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, et al.
Nutrients|June 13, 2025
Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening ToolBárbara Cristina Pezzi Sartor, Bibiana Mello de Oliveira, Katia Irie Teruya, et al.
Molecular Neurobiology|September 24, 2016
Serum Markers of Neurodegeneration in Maple Syrup Urine DiseaseGiselli Scaini, Tássia Tonon, Carolina F Moura de Souza, et al.
Gene|May 13, 2014
Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolismSoraia Poloni, Sandra Leistner-Segal, Isabel Cristina Bandeira, et al.
Journal of Community Genetics|February 6, 2025
Redefining the approach to rare diseases: the experience of "Casa dos Raros" in BrazilRoberto Giugliani, Bibiana Mello de Oliveira, Bruna Baierle Guaraná, et al.
Genes|December 30, 2020
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian PatientsRafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, et al.
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