Nazarenko I - Search Results

1

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Scott SA, et al. Among authors: nazarenko i. Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29. Hepatology. 2013. PMID: 23424026 Free PMC article.

2

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Grace ME, et al. Among authors: nazarenko i. Hum Mutat. 2007 Sep;28(9):866-73. doi: 10.1002/humu.20524. Hum Mutat. 2007. PMID: 17464953

3

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Dobrovolny R, et al. Among authors: nazarenko i. Hum Mutat. 2011 Jun;32(6):688-95. doi: 10.1002/humu.21474. Epub 2011 Mar 29. Hum Mutat. 2011. PMID: 21305660

4

Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.

Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Bishop DF, et al. Among authors: nazarenko i. Mol Med. 2013 Mar 5;19(1):18-25. doi: 10.2119/molmed.2013.00003. Mol Med. 2013. PMID: 23348515 Free PMC article.

5

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Weiss Y, et al. Among authors: nazarenko i. Mol Genet Metab. 2019 Nov;128(3):363-366. doi: 10.1016/j.ymgme.2018.11.013. Epub 2018 Nov 28. Mol Genet Metab. 2019. PMID: 30514647 Free PMC article.

6

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I, Desnick RJ. Weiss Y, et al. Among authors: nazarenko i. Mol Genet Metab. 2019 Nov;128(3):358-362. doi: 10.1016/j.ymgme.2018.08.015. Epub 2018 Aug 31. Mol Genet Metab. 2019. PMID: 30454868

7

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Among authors: nazarenko i. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.

8

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Rosti RO, et al. Among authors: nazarenko i. Clin Genet. 2015 Nov;88(5):489-493. doi: 10.1111/cge.12539. Epub 2014 Dec 11. Clin Genet. 2015. PMID: 25410422 Free PMC article.

9

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ. Loskove Y, et al. Among authors: nazarenko i. Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26. Mol Genet Metab. 2019. PMID: 30385147

10

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Chen B, et al. Among authors: nazarenko i. J Inherit Metab Dis. 2019 Jan;42(1):186-194. doi: 10.1002/jimd.12040. J Inherit Metab Dis. 2019. PMID: 30740734 Free PMC article.

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