Desviat LR - Search Results

1

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.

Álvarez M, Ruiz-Sala P, Pérez B, Desviat LR, Richard E. Álvarez M, et al. Among authors: desviat lr. Int J Mol Sci. 2023 Jan 22;24(3):2182. doi: 10.3390/ijms24032182. Int J Mol Sci. 2023. PMID: 36768524 Free PMC article.

2

Organization of the murE-murG region of Escherichia coli: identification of the murD gene encoding the D-glutamic-acid-adding enzyme.

Mengin-Lecreulx D, Parquet C, Desviat LR, Plá J, Flouret B, Ayala JA, van Heijenoort J. Mengin-Lecreulx D, et al. Among authors: desviat lr. J Bacteriol. 1989 Nov;171(11):6126-34. doi: 10.1128/jb.171.11.6126-6134.1989. J Bacteriol. 1989. PMID: 2681153 Free PMC article.

3

Novel features in the evolution of adenylosuccinate lyase deficiency.

Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R. Pérez-Dueñas B, et al. Among authors: desviat lr. Eur J Paediatr Neurol. 2012 Jul;16(4):343-8. doi: 10.1016/j.ejpn.2011.08.008. Epub 2011 Sep 7. Eur J Paediatr Neurol. 2012. PMID: 21903433

4

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.

5

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

6

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.

7

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.

8

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

9

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.

10

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.

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