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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J; ACMG Board of Directors. Electronic address: documents@acmg.net. Smith WE, et al. Among authors: vockley j. Genet Med. 2024 Dec 2:101289. doi: 10.1016/j.gim.2024.101289. Online ahead of print. Genet Med. 2024. PMID: 39630157
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: vockley j. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Carnitine.
Lin X, Adams SH, Vockley J, Odle J. Lin X, et al. Among authors: vockley j. Adv Nutr. 2024 Dec;15(12):100336. doi: 10.1016/j.advnut.2024.100336. Epub 2024 Nov 6. Adv Nutr. 2024. PMID: 39510254 Free PMC article. No abstract available.
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Chang IJ, Lam C, Vockley J. Chang IJ, et al. Among authors: vockley j. 2000 Apr 20 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Apr 20 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301597 Free Books & Documents. Review.
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E, Wang M, Szuminsky AJ, Ferraro L, Koppes E, Wang Y, Van't Land C, Mohsen AW, Zanatta G, El-Gharbawy AH, Anthonymuthu TS, Tyurina YY, Tyurin VA, Kagan V, Bayır H, Vockley J. Vieira Neto E, et al. Among authors: vockley j. JCI Insight. 2024 Sep 10;9(17):e176887. doi: 10.1172/jci.insight.176887. JCI Insight. 2024. PMID: 39088276 Free PMC article.
373 results