DeBerardinis RJ - Search Results

1

Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.

Ahmed S, Akbar F, DeBerardinis RJ, Ni M, Afroze B. Ahmed S, et al. Among authors: deberardinis rj. J Pediatr Endocrinol Metab. 2023 Jul 13;36(8):761-771. doi: 10.1515/jpem-2023-0083. Print 2023 Aug 28. J Pediatr Endocrinol Metab. 2023. PMID: 37440674

2

Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.

Abou Haidar L, Harris RC, Pachnis P, Chen H, Gotway GK, Ni M, DeBerardinis RJ. Abou Haidar L, et al. Among authors: deberardinis rj. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006295. doi: 10.1101/mcs.a006295. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37709555 Free PMC article.

3

Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

Abou Haidar L, Pachnis P, Gotway GK, Ni M, DeBerardinis RJ, McNutt MC. Abou Haidar L, et al. Among authors: deberardinis rj. JIMD Rep. 2023 Sep 7;64(6):403-409. doi: 10.1002/jmd2.12388. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927481 Free PMC article.

4

Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD⁺ deficiency.

Aaltio J, Euro L, Tynninen O, Vu HS, Ni M, DeBerardinis RJ, Suomalainen A, Isohanni P. Aaltio J, et al. Among authors: deberardinis rj. Neuromuscul Disord. 2024 Oct;43:14-19. doi: 10.1016/j.nmd.2024.07.005. Epub 2024 Aug 2. Neuromuscul Disord. 2024. PMID: 39173541 Free article.

5

Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.

Ahmed S, Cai L, Akbar F, Siddiqui A, DeBerardinis RJ, Ni M, Vu H, Afroze B. Ahmed S, et al. Among authors: deberardinis rj. Scand J Clin Lab Invest. 2024 Oct;84(6):391-397. doi: 10.1080/00365513.2024.2394983. Epub 2024 Sep 3. Scand J Clin Lab Invest. 2024. PMID: 39225018

6

Nuclear GTPSCS functions as a lactyl-CoA synthetase to promote histone lactylation and gliomagenesis.

Liu R, Ren X, Park YE, Feng H, Sheng X, Song X, AminiTabrizi R, Shah H, Li L, Zhang Y, Abdullah KG, Dubois-Coyne S, Lin H, Cole PA, DeBerardinis RJ, McBrayer SK, Huang H, Zhao Y. Liu R, et al. Among authors: deberardinis rj. Cell Metab. 2024 Dec 4:S1550-4131(24)00451-0. doi: 10.1016/j.cmet.2024.11.005. Online ahead of print. Cell Metab. 2024. PMID: 39642882

7

Dissecting molecular, pathological, and clinical features associated with tumor neural/neuroendocrine heterogeneity.

Cai L, DeBerardinis RJ, Xiao G, Minna JD, Xie Y. Cai L, et al. Among authors: deberardinis rj. iScience. 2023 May 28;26(6):106983. doi: 10.1016/j.isci.2023.106983. eCollection 2023 Jun 16. iScience. 2023. PMID: 37378310 Free PMC article.

8

Metabolic signatures of thymomas: potential biomarkers and treatment targets.

Miller JW, Faubert BM, Mathews TP, Waters JK, DeBerardinis RJ, Kernstine KH. Miller JW, et al. Among authors: deberardinis rj. Eur J Cardiothorac Surg. 2024 Feb 1;65(2):ezad394. doi: 10.1093/ejcts/ezad394. Eur J Cardiothorac Surg. 2024. PMID: 38011656 Free PMC article.

9

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.

Furuta Y, Tinker RJ, Hamid R, Cogan JD, Ezell KM, Oglesbee D, DeBerardinis RJ, Phillips JA 3rd; Undiagnosed Diseases Network. Furuta Y, et al. Among authors: deberardinis rj. Orphanet J Rare Dis. 2024 Nov 14;19(1):427. doi: 10.1186/s13023-024-03423-3. Orphanet J Rare Dis. 2024. PMID: 39543639 Free PMC article. Review.

10

FASN deficiency induces a cytosol-to-mitochondria citrate flux to mitigate detachment-induced oxidative stress.

Dai W, Wang Z, Wang G, Wang QA, DeBerardinis R, Jiang L. Dai W, et al. Cell Rep. 2023 Aug 29;42(8):112971. doi: 10.1016/j.celrep.2023.112971. Epub 2023 Aug 14. Cell Rep. 2023. PMID: 37578864 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

290 results

Search Page

Filters