Heath O - Search Results

1

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.

2

Early-onset vitamin B₆-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

Heath O, Pitt J, Mandelstam S, Kuschel C, Vasudevan A, Donoghue S. Heath O, et al. JIMD Rep. 2020 Nov 15;58(1):3-11. doi: 10.1002/jmd2.12183. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728241 Free PMC article.

3

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.

Donoghue SE, Heath O, Pitt J, Hong KM, Fuller M, Smith J. Donoghue SE, et al. Among authors: heath o. Clin Chem Lab Med. 2022 Aug 25;60(11):1855-1858. doi: 10.1515/cclm-2022-0473. Print 2022 Oct 26. Clin Chem Lab Med. 2022. PMID: 36000484

4

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

Heath O, Pandithan D, Pitt J, Savva E, Raiti L, Bracken J, Vandeleur M, Delatycki MB, Yaplito-Lee J, Hardikar W, Halligan R. Heath O, et al. JIMD Rep. 2023 Aug 19;64(5):337-345. doi: 10.1002/jmd2.12390. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701323 Free PMC article.

5

Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.

Heath O, Allender B, Smith J, Savva E, Spencer L, Bannister EG, Brown NJ, Evans MS, Kiss S, Rozen TH, Yaplito-Lee J. Heath O, et al. JIMD Rep. 2024 Jun 2;65(4):239-248. doi: 10.1002/jmd2.12434. eCollection 2024 Jul. JIMD Rep. 2024. PMID: 38974610 Free PMC article.

6

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.

7

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

8

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.

Heath O, Feichtinger RG, Achleitner MT, Hofbauer P, Mayr D, Merkevicius K, Spenger J, Steinbrücker K, Steindl C, Tiefenthaler E, Mayr JA, Wortmann SB. Heath O, et al. Eur J Paediatr Neurol. 2024 Dec 15;54:75-88. doi: 10.1016/j.ejpn.2024.10.009. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39793294 Free article. Review.

9

Proficiency-based progression training in robot-assisted laparoscopy for endometrial cancer: peri-operative and survival outcomes from an observational cohort study.

Sickinghe A, Nobbenhuis M, Nelissen E, Heath O, Ind T. Sickinghe A, et al. Among authors: heath o. Front Med (Lausanne). 2024 Jun 5;11:1370836. doi: 10.3389/fmed.2024.1370836. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38903811 Free PMC article.

10

Predicting Risk of Post-Operative Morbidity and Mortality following Gynaecological Oncology Surgery (PROMEGO): A Global Gynaecological Oncology Surgical Outcomes Collaborative Led Study.

Gaba F, Mohammadi SM, Krivonosov MI, Blyuss O; GO SOAR Collaborators. Gaba F, et al. Cancers (Basel). 2024 May 26;16(11):2021. doi: 10.3390/cancers16112021. Cancers (Basel). 2024. PMID: 38893143 Free PMC article.

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