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Year | Number of Results |
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1993 | 1 |
2021 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 1 |
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Page 1
Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency.
2022 Sep 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2022 Sep 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 36063482
Free Books & Documents.
Review.
Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.
Prasun P, Ginevic I, Oishi K.
Prasun P, et al. Among authors: ginevic i.
Transl Gastroenterol Hepatol. 2021 Jan 5;6:4. doi: 10.21037/tgh-20-125. eCollection 2021.
Transl Gastroenterol Hepatol. 2021.
PMID: 33437892
Free PMC article.
Review.
Item in Clipboard
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Sen K, Burrage LC, Chapman KA, Ginevic I, Mazariegos GV, Graham BH; ACMG Therapeutics Committee. Electronic address: documents@acmg.net.
Sen K, et al. Among authors: ginevic i.
Genet Med. 2023 Feb;25(2):100337. doi: 10.1016/j.gim.2022.11.005. Epub 2022 Dec 19.
Genet Med. 2023.
PMID: 36534118
Free article.
No abstract available.
Item in Clipboard
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA 3rd, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, McWhorter N, Kurtz C, Brennan AM.
Vockley J, et al. Among authors: ginevic i.
Nat Metab. 2023 Oct;5(10):1685-1690. doi: 10.1038/s42255-023-00897-6. Epub 2023 Sep 28.
Nat Metab. 2023.
PMID: 37770764
Clinical Trial.
Item in Clipboard
A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.
Donnelly C, Estrella L, Ginevic I, Ganesh J.
Donnelly C, et al. Among authors: ginevic i.
Int J Neonatal Screen. 2024 Jan 17;10(1):7. doi: 10.3390/ijns10010007.
Int J Neonatal Screen. 2024.
PMID: 38248634
Free PMC article.
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