Desviat LR - Search Results

1

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

Desviat LR, Pérez-Cerdá C, Pérez B, Esparza-Gordillo J, Rodríguez-Pombo P, Peñalva MA, Rodríguez De Córdoba S, Ugarte M. Desviat LR, et al. Mol Genet Metab. 2003 Nov;80(3):315-20. doi: 10.1016/S1096-7192(03)00130-6. Mol Genet Metab. 2003. PMID: 14680978

2

A new PKU mutation associated with haplotype 12.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765. Hum Mol Genet. 1992. PMID: 1363838 No abstract available.

3

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

Pérez B, Desviat LR, Die M, Ugarte M. Pérez B, et al. Among authors: desviat lr. Hum Genet. 1992 May;89(3):341-2. doi: 10.1007/BF00220555. Hum Genet. 1992. PMID: 1601425

4

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

Desviat LR, Pérez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M. Desviat LR, et al. Am J Hum Genet. 1995 Aug;57(2):337-42. Am J Hum Genet. 1995. PMID: 7668259 Free PMC article.

5

Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.

Nicolini H, Cruz C, Camarena B, Fernanda Merino M, Bilbao G, Vela M, Velázquez A, Pérez B, Desviat L, Ugarte M. Nicolini H, et al. Arch Med Res. 1995 Spring;26(1):53-7. Arch Med Res. 1995. PMID: 7711448

6

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.

Pérez B, Desviat LR, Ugarte M. Pérez B, et al. Among authors: desviat lr. Hum Mutat. 1995;5(2):188-90. doi: 10.1002/humu.1380050217. Hum Mutat. 1995. PMID: 7749420 No abstract available.

7

Spectrum and origin of phenylketonuria mutations in Spain.

Pérez B, Desviat LR, De Lucca M, Ugarte M. Pérez B, et al. Among authors: desviat lr. Acta Paediatr Suppl. 1994 Dec;407:34-6. doi: 10.1111/j.1651-2227.1994.tb13444.x. Acta Paediatr Suppl. 1994. PMID: 7766951

8

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

Martínez-Pardo M, Colmenares AR, García MJ, Pérez B, Desviat LR, Ugarte M. Martínez-Pardo M, et al. Among authors: desviat lr. J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832. J Inherit Metab Dis. 1994. PMID: 7807955 No abstract available.

9

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

Pérez B, Desviat LR, García MJ, Ugarte M. Pérez B, et al. Among authors: desviat lr. J Inherit Metab Dis. 1994;17(3):377-8. doi: 10.1007/BF00711839. J Inherit Metab Dis. 1994. PMID: 7807962 No abstract available.

10

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468. Hum Genet. 1993. PMID: 8104860

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