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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.
Lung metabolomics after ischemic acute kidney injury reveals increased oxidative stress, altered energy production, and ATP depletion.
Ambruso SL, Gil HW, Fox B, Park B, Altmann C, Bagchi RA, Baker PR 2nd, Reisz JA, Faubel S. Ambruso SL, et al. Among authors: baker pr 2nd. Am J Physiol Lung Cell Mol Physiol. 2021 Jul 1;321(1):L50-L64. doi: 10.1152/ajplung.00042.2020. Epub 2021 May 5. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 33949208 Free PMC article.
Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.
Kripps K, Kierstein J, Nicklas D, Nelson J, Yang M, Collins A, Troy E, Escolar M, Maloney J, Neuberger I, Stence N, Baker PR 2nd. Kripps K, et al. Among authors: baker pr 2nd. J Child Neurol. 2020 Sep;35(10):649-653. doi: 10.1177/0883073820924985. Epub 2020 Jun 2. J Child Neurol. 2020. PMID: 32484059
25 results