Ganetzky RD - Search Results

1

COXPD9 in an individual from Puerto Rico and literature review.

Alsharhan H, Muraresku C, Ganetzky RD. Alsharhan H, et al. Among authors: ganetzky rd. Am J Med Genet A. 2021 Aug;185(8):2519-2525. doi: 10.1002/ajmg.a.62344. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008913 Review.

2

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB. Zarate YA, et al. Am J Med Genet A. 2015 Sep;167A(9):2168-75. doi: 10.1002/ajmg.a.37126. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914130 Free PMC article.

3

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.

Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J. Ganetzky R, et al. Am J Med Genet A. 2015 Oct;167A(10):2411-7. doi: 10.1002/ajmg.a.37184. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033833

4

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.

Ganetzky RD, Falk MJ. Ganetzky RD, et al. Mol Genet Metab. 2018 Mar;123(3):301-308. doi: 10.1016/j.ymgme.2018.01.010. Epub 2018 Feb 2. Mol Genet Metab. 2018. PMID: 29428506 Free PMC article.

5

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Wild KT, Goldstein AC, Muraresku C, Ganetzky RD. Wild KT, et al. Among authors: ganetzky rd. Am J Med Genet A. 2020 Feb;182(2):365-373. doi: 10.1002/ajmg.a.61433. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825167 Free PMC article.

6

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2020 Aug;88(2):218-232. doi: 10.1002/ana.25789. Epub 2020 Jun 13. Ann Neurol. 2020. PMID: 32445240

7

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.

8

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.

Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R. Sheppard SE, et al. Am J Med Genet A. 2021 Feb;185(2):566-570. doi: 10.1002/ajmg.a.61978. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33251707 Free PMC article.

9

Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".

Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Zolkipli-Cunningham Z, Ganetzky R, Falk MJ, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2021 Mar;89(3):631-633. doi: 10.1002/ana.25999. Epub 2021 Jan 5. Ann Neurol. 2021. PMID: 33368550 No abstract available.

10

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.

Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. Murali CN, et al. Mol Genet Metab. 2021 Feb;132(2):146-153. doi: 10.1016/j.ymgme.2021.01.005. Epub 2021 Jan 14. Mol Genet Metab. 2021. PMID: 33485800 Free PMC article.

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