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Lori-Anne Schillaci

Case Western Reserve University

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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other disorders associated with lactic acidosis

2021 Molecular Genetics and Metabolism
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A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.

2021 Journal of the Endocrine Society
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