Bernhardt I - Search Results

1

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

Bernhardt I, Van Dorp L, Dixon M, McSweeney M, Gan C, Baruteau J, Chakrapani A. Bernhardt I, et al. JIMD Rep. 2023 Dec 28;65(1):10-16. doi: 10.1002/jmd2.12405. eCollection 2024 Jan. JIMD Rep. 2023. PMID: 38186850 Free PMC article.

2

Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.

Bernhardt I, Glamuzina E, Dowsett LK, Webster D, Knoll D, Carpenter K, Bennett MJ, Maeda M, Wilson C. Bernhardt I, et al. JIMD Rep. 2022 Mar 26;63(4):322-329. doi: 10.1002/jmd2.12271. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822099 Free PMC article.

3

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Bernhardt I, Glamuzina E, Ryder B, Knoll D, Heather N, De Hora M, Webster D, Wilson C. Bernhardt I, et al. JIMD Rep. 2022 Sep 21;64(2):180-186. doi: 10.1002/jmd2.12339. eCollection 2023 Mar. JIMD Rep. 2022. PMID: 36873086 Free PMC article.

4

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Bernhardt I, Frajman LE, Ryder B, Andersen E, Wilson C, McKeown C, Anderson T, Coman D, Vincent AL, Buchanan C, Roxburgh R, Pitt J, De Hora M, Christodoulou J, Thorburn DR, Wilson F, Drake KM, Leask M, Yardley AM, Merriman T, Robertson S, Compton AG, Glamuzina E. Bernhardt I, et al. Mol Genet Metab. 2024 Jul;142(3):108508. doi: 10.1016/j.ymgme.2024.108508. Epub 2024 May 25. Mol Genet Metab. 2024. PMID: 38820906

5

Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.

Coleman O, Gilmour L, Smith R, Bernhardt I, Ryder B, Glamuzina E, Hunter W. Coleman O, et al. Among authors: bernhardt i. J Paediatr Child Health. 2023 Mar;59(3):565-566. doi: 10.1111/jpc.16331. Epub 2023 Jan 23. J Paediatr Child Health. 2023. PMID: 36688264 No abstract available.

6

Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown.

Bernhardt I, Ryder B, Wilson C. Bernhardt I, et al. N Z Med J. 2022 Feb 4;135(1549):117-119. N Z Med J. 2022. PMID: 35728147 No abstract available.

7

Splenectomy versus angioembolization for severe splenic injuries in a national trauma registry: To save, or not to save, the spleen, that is the question.

Schaid TR Jr, Moore EE, Williams R, Sauaia A, Bernhardt IM, Pieracci FM, Yeh DD. Schaid TR Jr, et al. Among authors: bernhardt im. Surgery. 2025 Jan 4;180:109058. doi: 10.1016/j.surg.2024.109058. Online ahead of print. Surgery. 2025. PMID: 39756336

8

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Among authors: bernhardt i. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644

9

Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome.

Henry A, Bernhardt I, Hayes I, Mitchelson B. Henry A, et al. Among authors: bernhardt i. Clin Genet. 2022 Nov;102(5):461-462. doi: 10.1111/cge.14199. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35924320

10

The Relation Between Extracellular Vesicles Released From Red Blood Cells, Their Cargo, and the Clearance by Macrophages.

Nguyen DB, Tran HT, Kaestner L, Bernhardt I. Nguyen DB, et al. Among authors: bernhardt i. Front Physiol. 2022 Mar 31;13:783260. doi: 10.3389/fphys.2022.783260. eCollection 2022. Front Physiol. 2022. PMID: 35432007 Free PMC article.

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