Poenaru L - Search Results

1

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Diaz GA, et al. Among authors: poenaru l. Am J Hum Genet. 2000 Jun;66(6):1821-32. doi: 10.1086/302946. Epub 2000 Apr 21. Am J Hum Genet. 2000. PMID: 10777718 Free PMC article.

2

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Germain DP, et al. Among authors: poenaru l. Am J Hum Genet. 1998 Aug;63(2):415-27. doi: 10.1086/301969. Am J Hum Genet. 1998. PMID: 9683600 Free PMC article.

3

Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.

Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C. Drugan C, et al. Among authors: poenaru l. Eur J Hum Genet. 2002 Sep;10(9):511-5. doi: 10.1038/sj.ejhg.5200845. Eur J Hum Genet. 2002. PMID: 12173027

4

[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.

5

Residual mannosidase activity in human mannosidosis: characterization of the mutant enzyme.

Poenaru L, Miranda C, Dreyfus JC. Poenaru L, et al. Am J Hum Genet. 1980 May;32(3):354-63. Am J Hum Genet. 1980. PMID: 7386463 Free PMC article.

6

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

Germain DP, Salard D, Fellmann F, Azibi K, Caillaud C, Bernard MC, Poenaru L. Germain DP, et al. Among authors: poenaru l. Hum Mutat. 2001 Apr;17(4):353. doi: 10.1002/humu.41. Hum Mutat. 2001. PMID: 11295840 No abstract available.

7

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

8

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.

Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C. Draghia R, et al. Among authors: poenaru l. Hum Mutat. 1997;9(3):234-42. doi: 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9090526

9

Gene therapy in lysosomal diseases.

Caillaud C, Poenaru L. Caillaud C, et al. Among authors: poenaru l. Biomed Pharmacother. 2000 Oct;54(10):505-12. doi: 10.1016/s0753-3322(00)00009-3. Biomed Pharmacother. 2000. PMID: 11130848 Review.

10

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M. Laforêt P, et al. Among authors: poenaru l. Neurology. 2000 Oct 24;55(8):1122-8. doi: 10.1212/wnl.55.8.1122. Neurology. 2000. PMID: 11071489

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

101 results

Search Page

Filters