P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423000493 |
| _version_ | 1797342117679333376 |
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| author | Anisha Verma April Lehman Lorna Cropcho Danielle Black Steven Dobrowolski Jerry Vockley Jirair Bedoyan |
| author_facet | Anisha Verma April Lehman Lorna Cropcho Danielle Black Steven Dobrowolski Jerry Vockley Jirair Bedoyan |
| author_sort | Anisha Verma |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:28:47Z |
| format | Article |
| id | doaj.art-ac0d6564f9684dd38a8a8de528c805bb |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:28:47Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-ac0d6564f9684dd38a8a8de528c805bb2024-01-27T07:03:51ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100049P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*Anisha Verma0April Lehman1Lorna Cropcho2Danielle Black3Steven Dobrowolski4Jerry Vockley5Jirair Bedoyan6UPMC Children's Hospital of Pittsburgh, Pittsburgh, PAUPMC Children's Hospital of Pittsburgh, Pittsburgh, PAUPMC Children's Hospital of Pittsburgh, Pittsburgh, PAUPMC Children's Hospital of Pittsburgh, Pittsburgh, PADepartment of Pathology, University of PittsburghUPMC Children's Hospital of Pittsburgh, Pittsburgh, PAUPMC Children's Hospital of Pittsburgh, Pittsburgh, PAhttp://www.sciencedirect.com/science/article/pii/S2949774423000493 |
| spellingShingle | Anisha Verma April Lehman Lorna Cropcho Danielle Black Steven Dobrowolski Jerry Vockley Jirair Bedoyan P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* Genetics in Medicine Open |
| title | P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* |
| title_full | P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* |
| title_fullStr | P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* |
| title_full_unstemmed | P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* |
| title_short | P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* |
| title_sort | p039 retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency pdcd and other mitochondrial disorders mtds |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423000493 |
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