Radeva B[Author] - Search Results

Year	Number of Results
1991	1
1992	1
1993	1
1999	1
2001	1
2009	1
2011	1
2024	0

1

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Stancheva-Ivanova MK, Wuyts W, van Hul E, Radeva BI, Vazharova RV, Sokolov TP, Vladimirov BY, Apostolova MD, Kremensky IM. Stancheva-Ivanova MK, et al. Among authors: radeva bi. J Inherit Metab Dis. 2011 Aug;34(4):917-21. doi: 10.1007/s10545-011-9314-8. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499719

2

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. Hofer D, et al. Among authors: radeva b. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. Hum Mutat. 2009. PMID: 19472408

3

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. Kalaydjieva L, et al. Among authors: radeva b. Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611. Am J Hum Genet. 1999. PMID: 10521295 Free PMC article.

4

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B. Paschke E, et al. Among authors: radeva b. Hum Genet. 2001 Aug;109(2):159-66. doi: 10.1007/s004390100570. Hum Genet. 2001. PMID: 11511921

5

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.

Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla-Scholz C, Horst J. Kalaydjieva L, et al. Among authors: radeva b. Clin Genet. 1992 Mar;41(3):123-8. doi: 10.1111/j.1399-0004.1992.tb03647.x. Clin Genet. 1992. PMID: 1563085

6

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

Dworniczak B, Kalaydjieva L, Aulehla-Scholz C, Ullrich K, Kremensky I, Radeva B, Horst J. Dworniczak B, et al. Among authors: radeva b. Hum Genet. 1991 Oct;87(6):731-3. doi: 10.1007/BF00201735. Hum Genet. 1991. PMID: 1682234

7

Relation between phenotype and genotype in phenylketonuric patients from Bulgaria.

Radeva B. Radeva B. J Inherit Metab Dis. 1993;16(1):158-9. doi: 10.1007/BF00711332. J Inherit Metab Dis. 1993. PMID: 8487497 No abstract available.

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