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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. Starosta RT, et al. Among authors: baker pr 2nd. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. Mitochondrion. 2024. PMID: 39413893
Disruption in glutathione metabolism and altered energy production in the liver and kidney after ischemic acute kidney injury in mice.
Baker PR 2nd, Li AS, Griffin BR, Gil HW, Orlicky DJ, Fox BM, Park B, Sparagna GC, Goff J, Altmann C, Elajaili H, Okamura K, He Z, Stephenson D, D'Alessandro A, Reisz JA, Nozik ES, Sucharov CC, Faubel S. Baker PR 2nd, et al. Sci Rep. 2024 Jun 15;14(1):13862. doi: 10.1038/s41598-024-64586-4. Sci Rep. 2024. PMID: 38879688 Free PMC article.
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF. Van Hove JLK, et al. Among authors: baker pr 2nd. Mitochondrion. 2024 Sep;78:101905. doi: 10.1016/j.mito.2024.101905. Epub 2024 May 24. Mitochondrion. 2024. PMID: 38797357
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: baker pr 2nd. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
Recognizing and Managing a Metabolic Crisis.
Baker PR 2nd. Baker PR 2nd. Pediatr Clin North Am. 2023 Oct;70(5):979-993. doi: 10.1016/j.pcl.2023.05.009. Epub 2023 Jul 6. Pediatr Clin North Am. 2023. PMID: 37704355 Review.
Lower citrate synthase activity, mitochondrial complex expression, and fewer oxidative myofibers characterize skeletal muscle from growth-restricted fetal sheep.
Stremming J, Chang EI, Knaub LA, Armstrong ML, Baker PR 2nd, Wesolowski SR, Reisdorph N, Reusch JEB, Brown LD. Stremming J, et al. Among authors: baker pr 2nd. Am J Physiol Regul Integr Comp Physiol. 2022 Mar 1;322(3):R228-R240. doi: 10.1152/ajpregu.00222.2021. Epub 2021 Dec 15. Am J Physiol Regul Integr Comp Physiol. 2022. PMID: 34907787 Free PMC article.
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. Kripps KA, et al. Among authors: baker pr 2nd. Mol Genet Metab. 2021 Jul;133(3):231-241. doi: 10.1016/j.ymgme.2021.04.007. Epub 2021 May 7. Mol Genet Metab. 2021. PMID: 33985889 Free article. Review.
28 results