Tolun AA - 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. Among authors: tolun aa. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.

2

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. Among authors: tolun aa. 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.

3

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. Among authors: tolun aa. Transl Pediatr. 2022 Oct;11(10):1704-1716. doi: 10.21037/tp-22-105. Transl Pediatr. 2022. PMID: 36345452 Free PMC article. Review.

4

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: tolun aa. 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

5

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: tolun aa. Nutrients. 2023 Jan 19;15(3):531. doi: 10.3390/nu15030531. Nutrients. 2023. PMID: 36771238 Free PMC article. Review.

6

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: tolun aa. 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.

7

Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.

Cunningham SC, van Dijk EB, Zhu E, Sugden M, Mandwie M, Siew S, Devanapalli B, Tolun AA, Klein A, Wilson L, Aryamanesh N, Gissen P, Baruteau J, Bhattacharya K, Alexander IE. Cunningham SC, et al. Among authors: tolun aa. Hum Gene Ther. 2023 Sep;34(17-18):917-926. doi: 10.1089/hum.2023.011. Epub 2023 Sep 11. Hum Gene Ther. 2023. PMID: 37350098

8

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Evesson FJ, Dziaduch G, Bryen SJ, Moore F, Pittman S, Devanapalli B, Waddell LB, Ryan MM, Menezes MP, Weihl CC, Tolun AA, Zaidman C, Young H, Adès LC, Cooper ST. Evesson FJ, et al. Among authors: tolun aa. Hum Mol Genet. 2023 Jun 5;32(12):2084-2092. doi: 10.1093/hmg/ddad035. Hum Mol Genet. 2023. PMID: 36920481 Free PMC article.

9

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. Among authors: tolun aa. 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.

10

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

El-Gharbawy A, Tolun AA, Halaby CA, Austin SL, Kishnani PS, Bali DS. El-Gharbawy A, et al. Among authors: tolun aa. Mol Genet Metab Rep. 2022 Feb 28;31:100856. doi: 10.1016/j.ymgmr.2022.100856. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782603 Free PMC article.

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