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Histologically atypical case of Gaucher disease type 1.
Sabljak J, Heath O, Halligan R, Cheng DR. Sabljak J, et al. Among authors: heath o. BMJ Case Rep. 2023 Sep 29;16(9):e256368. doi: 10.1136/bcr-2023-256368. BMJ Case Rep. 2023. PMID: 37775277
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: heath o. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Among authors: heath o. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.
Prognosis Following Surgery for Recurrent Ovarian Cancer and Diagnostic Criteria Predictive of Cytoreduction Success: A Systematic Review and Meta-Analysis.
Gaba F, Blyuss O, Chandrasekaran D, Bizzarri N, Refky B, Barton D, Ind T, Nobbenhuis M, Butler J, Heath O, Jeyarajah A, Brockbank E, Lawrence A, Manchanda R, Dilley J, Phadnis S, On Behalf Of The Go Soar Collaborative. Gaba F, et al. Among authors: heath o. Diagnostics (Basel). 2023 Nov 20;13(22):3484. doi: 10.3390/diagnostics13223484. Diagnostics (Basel). 2023. PMID: 37998621 Free PMC article. Review.
47 results