Bursle C - Search Results

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N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Selvanathan A, Demetriou K, Lynch M, Lipke M, Bursle C, Elliott A, Inwood A, Foyn L, McWhinney B, Coman D, McGill J. Selvanathan A, et al. Among authors: bursle c. JIMD Rep. 2022 Jul 22;63(5):420-424. doi: 10.1002/jmd2.12318. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101823 Free PMC article.

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

Bursle C, Weintraub R, Ward C, Justo R, Cardinal J, Coman D. Bursle C, et al. JIMD Rep. 2018;40:91-95. doi: 10.1007/8904_2017_68. Epub 2017 Nov 10. JIMD Rep. 2018. PMID: 29124685 Free PMC article.

DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.

Bursle C, Brown D, Cardinal J, Connor F, Calvert S, Coman D. Bursle C, et al. JIMD Rep. 2017;34:27-32. doi: 10.1007/8904_2016_7. Epub 2016 Aug 2. JIMD Rep. 2017. PMID: 27481510 Free PMC article.

COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.

Bursle C, Narendra A, Chuk R, Cardinal J, Justo R, Lewis B, Coman D. Bursle C, et al. JIMD Rep. 2017;34:105-109. doi: 10.1007/8904_2016_13. Epub 2016 Nov 5. JIMD Rep. 2017. PMID: 27815843 Free PMC article.

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.

Bursle C, Riney K, Stringer J, Moore D, Gole G, Kearns LS, Mackey DA, Coman D. Bursle C, et al. JIMD Rep. 2018;42:53-60. doi: 10.1007/8904_2017_79. Epub 2017 Dec 17. JIMD Rep. 2018. PMID: 29249004 Free PMC article.

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

Bursle C, Yiu EM, Yeung A, Freeman JL, Stutterd C, Leventer RJ, Vanderver A, Yaplito-Lee J. Bursle C, et al. JIMD Rep. 2019 Nov 12;51(1):11-16. doi: 10.1002/jmd2.12081. eCollection 2020 Jan. JIMD Rep. 2019. PMID: 32071834 Free PMC article.

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