Hertzog A - Search Results

1

Intronic variants in inborn errors of metabolism: Beyond the exome.

Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.

2

Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.

Montgomery MK, Osborne B, Brandon AE, O'Reilly L, Fiveash CE, Brown SHJ, Wilkins BP, Samsudeen A, Yu J, Devanapalli B, Hertzog A, Tolun AA, Kavanagh T, Cooper AA, Mitchell TW, Biden TJ, Smith NJ, Cooney GJ, Turner N. Montgomery MK, et al. Among authors: hertzog a. FASEB J. 2019 Nov;33(11):12264-12276. doi: 10.1096/fj.201900234R. Epub 2019 Aug 15. FASEB J. 2019. PMID: 31415180 Free PMC article.

3

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

Selvanathan A, Hertzog A, Lemberg DA, Ellaway C. Selvanathan A, et al. Among authors: hertzog a. J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):208-210. doi: 10.1097/MPG.0000000000002716. J Pediatr Gastroenterol Nutr. 2020. PMID: 32265410

4

Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.

Hertzog A, Selvanathan A, Tolun AA, Parayil Sankaran B, Bhattacharya K. Hertzog A, et al. J Paediatr Child Health. 2021 Oct;57(10):1703-1706. doi: 10.1111/jpc.15365. Epub 2021 Feb 15. J Paediatr Child Health. 2021. PMID: 33586825 No abstract available.

5

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.

Hertzog A, Selvanathan A, Halligan R, Fazio T, de Jong G, Bratkovic D, Bhattacharya K, Tolun AA, Bennetts B, Fisk K. Hertzog A, et al. JIMD Rep. 2022 Apr 12;63(4):271-275. doi: 10.1002/jmd2.12289. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822098 Free PMC article.

6

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Hertzog A, Selvanathan A, Pandithan D, Kim WT, Kava MP, Boneh A, Coman D, Tolun AA, Bhattacharya K. Hertzog A, et al. JIMD Rep. 2022 Sep 14;63(6):568-574. doi: 10.1002/jmd2.12332. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341175 Free PMC article.

7

A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.

Hertzog A, Selvanathan A, Devanapalli B, Ho G, Bhattacharya K, Tolun AA. Hertzog A, et al. Transl Pediatr. 2022 Oct;11(10):1704-1716. doi: 10.21037/tp-22-105. Transl Pediatr. 2022. PMID: 36345452 Free PMC article. Review.

8

Inborn errors of metabolism refuse to stay-at-home: Experiences of a state-wide biochemical genetics service during the COVID-19 pandemic.

Gutierrez B, Hertzog A, Badman S, Tolun AA. Gutierrez B, et al. Among authors: hertzog a. J Paediatr Child Health. 2023 Feb;59(2):247-252. doi: 10.1111/jpc.16273. Epub 2022 Nov 24. J Paediatr Child Health. 2023. PMID: 36422466

9

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, Mitchell A, Dalkeith T, Billmore K, Moore F, Tolun AA, Devanapalli B, Bratkovic D, Hilditch C, Rahman Y, Tchan M, Bhattacharya K. Thompson S, et al. Among authors: hertzog a. Nutrients. 2023 Jan 19;15(3):531. doi: 10.3390/nu15030531. Nutrients. 2023. PMID: 36771238 Free PMC article. Review.

10

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Coupe S, Hertzog A, Foran C, Tolun AA, Suthern M, Chung CWT, Ellaway C. Coupe S, et al. Among authors: hertzog a. Clin Case Rep. 2023 Feb 19;11(2):e6920. doi: 10.1002/ccr3.6920. eCollection 2023 Feb. Clin Case Rep. 2023. PMID: 36814711 Free PMC article.

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