Pérez B - Search Results

1

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR. Arrabal L, et al. Among authors: perez cerda c, perez b. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24. Neurogenetics. 2011. PMID: 21431957

2

A new PKU mutation associated with haplotype 12.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: perez b. 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. 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. Among authors: perez b. Am J Hum Genet. 1995 Aug;57(2):337-42. Am J Hum Genet. 1995. PMID: 7668259 Free PMC article.

5

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.

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

6

Spectrum and origin of phenylketonuria mutations in Spain.

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

7

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: perez b. J Inherit Metab Dis. 1994;17(3):366-8. doi: 10.1007/BF00711832. J Inherit Metab Dis. 1994. PMID: 7807955 No abstract available.

8

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

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

9

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

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

10

Presence of the Mediterranean PKU mutation IVS10 in Latin America.

Pérez B, Desviat LR, Díe M, Cornejo V, Chamoles NA, Nicolini H, Ugarte M. Pérez B, et al. Hum Mol Genet. 1993 Aug;2(8):1289-90. doi: 10.1093/hmg/2.8.1289. Hum Mol Genet. 1993. PMID: 8401510 No abstract available.

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