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Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking.
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- Clinical Genetics, 2015, v. 88, n. 2, p. 190, doi. 10.1111/cge.12469
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- Article
Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.
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- International Journal of Laboratory Hematology, 2016, v. 38, n. 2, p. e27, doi. 10.1111/ijlh.12455
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- Article
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.
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- Clinical Genetics, 2012, v. 81, n. 4, p. 379, doi. 10.1111/j.1399-0004.2011.01625.x
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- Article