publicações selecionadas
- Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
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Sanfilippo syndrome type B: Analysis of patients diagnosed by the
MPS Brazil Network - COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
- Monitoring of Phenylalanine Levels in Patients with Phenylketonuria using Dried Blood Spots: A Comparison of Two Methods
- Quantitation of glycosaminoglycans in amniotic fluid by liquid chromatography tandem mass spectrometry: A potential tool for the rapid prenatal identification of MPS in pregnancies at risk
- Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
- Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
