Lı́lia Farret Refosco

Hospital de Clínicas de Porto Alegre — Brazil

Biochemistry, Genetics and Molecular Biology · Life Sciences

8h-index260citations73works0.22yr avg
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Research Topics

Metabolism and Genetic Disorders(22), Glycogen Storage Diseases and Myoclonus(17), Folate and B Vitamins Research(13), Child Nutrition and Feeding Issues(9), Diet and metabolism studies(7)

Publications73 total

Clinical and genetic features of Classic Galactosemia in the south of Brazil
Molecular Genetics and Metabolism·2025· 1 cited
Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool
Nutrients·2025Open Access
The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria
Children·2025Open Access
B Complex Vitamins Profile in Patients with Hepatic Glycogen Storage Disease and its Possible Determinants
Journal of Inborn Errors of Metabolism and Screening·2025Open Access
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report
Molecular Genetics and Metabolism Reports·2024Open Access
AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet
Healthcare Informatics Research·2024· 1 citedOpen Access
Brazilian cohort of patients diagnosed with glucose transporter type 1 deficiency syndrome (GLUT1)
Molecular Genetics and Metabolism·2024
General overview of urea cycle disorders (UCDs) in Brazil
Molecular Genetics and Metabolism·2024
Very long-chain acyl-CoA dehydrogenase deficiency: an illustrative case of late manifestation inborn error of metabolism
Arquivos de Neuro-Psiquiatria·2024Open Access
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
Biomedicines·2023· 7 citedOpen Access
Dificuldades alimentares em pacientes com Fenilcetonúria
CoDAS·2023· 1 citedOpen Access
Feeding difficulties in patients with Phenylketonuria
CoDAS·2023· 1 citedOpen Access
Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases
Nutrients·2021· 12 citedOpen Access
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey
Nutrients·2021· 16 citedOpen Access
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia
Orphanet Journal of Rare Diseases·2021· 7 citedOpen Access
Description of a Nutrition Screening and Assessment Tool and Associations with Clinical Outcomes in Preterm Newborns
Nutrition in Clinical Practice·2021· 1 cited
Abordagem Inovadora no tratamento das Glicogenoses Hepáticas: Estudo do Polvilho Doce Cru
2020
Oficina de culinária hipoproteica para erros inatos do metabolismo
Lume (Universidade Federal do Rio Grande do Sul)·2019Open Access
Ensaio clínico fase I/II, randomizado, triplo-cego, cruzado avaliando o uso de polvilho doce cru na Glicogenose tipo IA : resultados preliminares
Lume (Universidade Federal do Rio Grande do Sul)·2019Open Access
Caracterização de recém-nascidos pré-termo hospitalizados em uma Unidade de Internação Neonatal de Porto Alegre – RS
2019Open Access
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Frequent Co-authors

Carolina Fischinger Moura de Souza(27), Ida Vanessa Döederlein Schwartz(25), Tatiéle Nalin(16), Roberto Giugliani(14), Filippo Pinto e Vairo(10), Cristina Brinckmann Oliveira Netto(10), Maria Teresa Vieira Sanseverino(9), Soraia Poloni(8), Bruna Bento dos Santos(6), Ricardo Flores Pires(5), Vaneisse Cristina Lima Monteiro(5), Sandra Maria Gonçalves Vieira(4), Tássia Tonon(4), Bibiana Mello de Oliveira(4), Fernanda Sperb‐Ludwig(4), Roberta Aguiar Sarmento(4), Silvani Herber(4), Célio Luiz Rafaelli(4), Lavínia Schüler‐Faccini(3), Chenia Caldeira Martinez(3)