Pérez B - Search Results

1

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: perez b. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.

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

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.

8

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

9

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.

10

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: perez b. J Inherit Metab Dis. 1996;19(2):227-30. doi: 10.1007/BF01799436. J Inherit Metab Dis. 1996. PMID: 8739972 No abstract available.

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

941 results

Search Page

Filters