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Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP, Poenaru L. Germain DP, et al. Among authors: poenaru l. Biochem Biophys Res Commun. 1999 Apr 21;257(3):708-13. doi: 10.1006/bbrc.1999.0310. Biochem Biophys Res Commun. 1999. PMID: 10208848
[Gaucher's and Fabry's diseases: biochemical and genetic aspects].
Caillaud C, Poenaru L. Caillaud C, et al. Among authors: poenaru l. J Soc Biol. 2002;196(2):135-40. J Soc Biol. 2002. PMID: 12360742 Review. French.
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L. Nicolino M, et al. Among authors: poenaru l. Biochem Biophys Res Commun. 1997 Jun 9;235(1):138-41. doi: 10.1006/bbrc.1997.6749. Biochem Biophys Res Commun. 1997. PMID: 9196050
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
Nicolino MP, Puech JP, Kremer EJ, Reuser AJ, Mbebi C, Verdière-Sahuqué M, Kahn A, Poenaru L. Nicolino MP, et al. Among authors: poenaru l. Hum Mol Genet. 1998 Oct;7(11):1695-702. doi: 10.1093/hmg/7.11.1695. Hum Mol Genet. 1998. PMID: 9736771
[The genetic mechanisms of lysosomal enzymopathies].
Poénaru L. Poénaru L. Endocrinologie. 1990 Jul-Dec;28(3-4):211-4. Endocrinologie. 1990. PMID: 2103976 French. No abstract available.
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
Guidotti JE, Mignon A, Haase G, Caillaud C, McDonell N, Kahn A, Poenaru L. Guidotti JE, et al. Among authors: poenaru l. Hum Mol Genet. 1999 May;8(5):831-8. doi: 10.1093/hmg/8.5.831. Hum Mol Genet. 1999. PMID: 10196372
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L. Germain D, et al. Among authors: poenaru l. Hum Genet. 1996 Dec;98(6):719-26. doi: 10.1007/s004390050292. Hum Genet. 1996. PMID: 8931708
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Akli S, Guidotti JE, Vigne E, Perricaudet M, Sandhoff K, Kahn A, Poenaru L. Akli S, et al. Among authors: poenaru l. Gene Ther. 1996 Sep;3(9):769-74. Gene Ther. 1996. PMID: 8875224
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A. Akli S, et al. Among authors: poenaru l. Genomics. 1991 Sep;11(1):124-34. doi: 10.1016/0888-7543(91)90109-r. Genomics. 1991. PMID: 1837283
Approach to gene therapy of glycogenosis type II (Pompe disease).
Poenaru L. Poenaru L. Mol Genet Metab. 2000 Jul;70(3):163-9. doi: 10.1006/mgme.2000.3003. Mol Genet Metab. 2000. PMID: 10924270 Review.
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