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List of works by Fernanda Sperb-Ludwig

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

scientific article published in January 2022

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

scientific article published on 30 March 2020

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients

scientific article published on 11 September 2019

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

scientific article published on 01 July 2019

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

scientific article published on 01 November 2020

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

scientific article published on 25 December 2020

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

scientific article published on 24 July 2020

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