Ganetzky RD - Search Results

1

Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder.

Gill EL, Wang J, Viaene AN, Master SR, Ganetzky RD. Gill EL, et al. Among authors: ganetzky rd. Clin Chem. 2023 Jun 1;69(6):564-582. doi: 10.1093/clinchem/hvad037. Clin Chem. 2023. PMID: 37099687 Review.

2

Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.

Alsharhan H, Alharbi H, Priestley J, Ganetzky R, He M. Alsharhan H, et al. Clin Chem. 2020 Jul 1;66(7):988-989. doi: 10.1093/clinchem/hvaa101. Clin Chem. 2020. PMID: 32628763 Free PMC article. No abstract available.

3

Machine Learning for the Biochemical Genetics Laboratory.

Ganetzky RD, Master SR. Ganetzky RD, et al. Clin Chem. 2020 Sep 1;66(9):1134-1135. doi: 10.1093/clinchem/hvaa168. Clin Chem. 2020. PMID: 32785708 Free PMC article. No abstract available.

4

Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Alharbi H, Bennett MJ, He M, Master SR, Ganetzky RD. Alharbi H, et al. Among authors: ganetzky rd. Clin Chem. 2021 Nov 26;67(12):1735-1737. doi: 10.1093/clinchem/hvab154. Clin Chem. 2021. PMID: 34850845 Free PMC article. No abstract available.

5

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Wang J, et al. Among authors: ganetzky rd. Mol Genet Metab. 2022 Jan;135(1):93-101. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34969639 Free PMC article.

6

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.

Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 May;44(5):602-610. doi: 10.3174/ajnr.A7837. Epub 2023 Apr 6. AJNR Am J Neuroradiol. 2023. PMID: 37024306 Free PMC article. Review.

7

Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder.

Wongkittichote P, Ganetzky RD, Demczko MM, Hong X, He M, Master SR. Wongkittichote P, et al. Among authors: ganetzky rd. Clin Chem. 2023 Jun 1;69(6):661-664. doi: 10.1093/clinchem/hvad039. Clin Chem. 2023. PMID: 37258485 No abstract available.

8

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.

Wongkittichote P, Cuddapah SR, Master SR, Grange DK, Dietzen D, Roper SM, Ganetzky RD. Wongkittichote P, et al. Among authors: ganetzky rd. JIMD Rep. 2023 Aug 4;64(5):367-374. doi: 10.1002/jmd2.12382. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701333 Free PMC article.

9

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.

Guzman H, Yazdani S, Harmon JL, Chapman KA, Vitola B, Pyle L, McKnight H, Sigal W, Lord K, De Leon DD, Merchant N, Ganetzky R. Guzman H, et al. Front Endocrinol (Lausanne). 2023 Nov 1;14:1268135. doi: 10.3389/fendo.2023.1268135. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38027095 Free PMC article.

10

Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics.

Kemperman RHJ, Ganetzky RD, Master SR. Kemperman RHJ, et al. Among authors: ganetzky rd. J Mass Spectrom Adv Clin Lab. 2024 Jan 23;31:49-58. doi: 10.1016/j.jmsacl.2024.01.004. eCollection 2024 Jan. J Mass Spectrom Adv Clin Lab. 2024. PMID: 38375486 Free PMC article.

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