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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 70, doi. 10.1002/jmd2.12153
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- Article
Hepatic metabolism of 3‐hydroxypropionate, a toxic byproduct in propionic acidemia (590.2).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.590.2
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- Article
Cellular and clinical report of new Griscelli syndrome type III cases.
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- Pigment Cell & Melanoma Research, 2012, v. 25, n. 1, p. 47, doi. 10.1111/j.1755-148X.2011.00901.x
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- Article