Altarescu G - Search Results

1

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A. Germain DP, et al. Among authors: altarescu g. Mol Genet Metab. 2022 Sep-Oct;137(1-2):49-61. doi: 10.1016/j.ymgme.2022.07.010. Epub 2022 Jul 26. Mol Genet Metab. 2022. PMID: 35926321 Free article. Review.

2

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Among authors: altarescu g. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.

3

An association study of inflammatory cytokine gene polymorphisms in Fabry disease.

Safyan R, Whybra C, Beck M, Elstein D, Altarescu G. Safyan R, et al. Among authors: altarescu g. Eur Cytokine Netw. 2006 Dec;17(4):271-5. Eur Cytokine Netw. 2006. PMID: 17353161 Free article.

4

Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease.

Teitcher M, Weinerman S, Whybra C, Beck M, Sharon N, Elstein D, Altarescu G. Teitcher M, et al. Among authors: altarescu g. Genetica. 2008 Nov;134(3):377-83. doi: 10.1007/s10709-008-9245-y. Epub 2008 Feb 16. Genetica. 2008. PMID: 18278558

5

A safety trial of high dose glyceryl triacetate for Canavan disease.

Segel R, Anikster Y, Zevin S, Steinberg A, Gahl WA, Fisher D, Staretz-Chacham O, Zimran A, Altarescu G. Segel R, et al. Among authors: altarescu g. Mol Genet Metab. 2011 Jul;103(3):203-6. doi: 10.1016/j.ymgme.2011.03.012. Epub 2011 Mar 15. Mol Genet Metab. 2011. PMID: 21474353 Clinical Trial.

6

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, Nagle JW, Schiffmann R. Altarescu GM, et al. Clin Genet. 2001 Jul;60(1):46-51. doi: 10.1034/j.1399-0004.2001.600107.x. Clin Genet. 2001. PMID: 11531969

7

Effect of genetic modifiers on cerebral lesions in Fabry disease.

Altarescu G, Moore DF, Schiffmann R. Altarescu G, et al. Neurology. 2005 Jun 28;64(12):2148-50. doi: 10.1212/01.WNL.0000166000.24321.4F. Neurology. 2005. PMID: 15985593

8

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.

Segal P, Kohn Y, Pollak Y, Altarescu G, Galili-Weisstub E, Raas-Rothschild A. Segal P, et al. Among authors: altarescu g. J Inherit Metab Dis. 2010 Aug;33(4):429-36. doi: 10.1007/s10545-010-9133-3. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549363

9

Paraoxonase (PON1) gene polymorphisms in Fabry disease: correlation with renal disease.

Shemesh T, Whybra C, Delgado-Sanchez S, Beck M, Elstein D, Altarescu G. Shemesh T, et al. Among authors: altarescu g. Nephron Clin Pract. 2010;116(4):c289-93. doi: 10.1159/000318791. Epub 2010 Jul 16. Nephron Clin Pract. 2010. PMID: 20639675

10

Fabry disease in an oligosymptomatic male.

Altarescu G, Elstein D. Altarescu G, et al. Isr Med Assoc J. 2011 Mar;13(3):191-2. Isr Med Assoc J. 2011. PMID: 21608346 Free article. No abstract available.

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