De Lucca M - Search Results

1

Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene.

De Lucca M, Arias I, Casique L, Araujo K, Merzon RM. De Lucca M, et al. Clin Chim Acta. 2009 Apr;402(1-2):206-8. doi: 10.1016/j.cca.2008.10.029. Epub 2008 Nov 11. Clin Chim Acta. 2009. PMID: 19038240 No abstract available.

2

A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.

De Lucca M, Barba C, Casique L. De Lucca M, et al. Clin Chim Acta. 2017 Jul;470:20-23. doi: 10.1016/j.cca.2017.04.021. Epub 2017 Apr 24. Clin Chim Acta. 2017. PMID: 28450132

3

[Clinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria].

Mahfoud A, de Lucca M, Domínguez CL, Arias I, Casique L, Araujo K, Rodríguez T, Bottaro M, Colmenares AR, López ME, Merzon RM. Mahfoud A, et al. Among authors: de lucca m. Rev Neurol. 2008 Jul 1-15;47(1):5-10. Rev Neurol. 2008. PMID: 18592473 Free article. Spanish.

4

Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.

De Lucca M, Casique L. De Lucca M, et al. Mol Genet Metab. 2004 Mar;81(3):209-15. doi: 10.1016/j.ymgme.2003.12.003. Mol Genet Metab. 2004. PMID: 14972327

5

Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.

Casique L, Kabil O, Banerjee R, Martinez JC, De Lucca M. Casique L, et al. Among authors: de lucca m. Gene. 2013 Nov 15;531(1):117-24. doi: 10.1016/j.gene.2013.08.021. Epub 2013 Aug 24. Gene. 2013. PMID: 23981774 Free PMC article.

6

Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.

Florez I, Pirrone I, Casique L, Domínguez CL, Mahfoud A, Rodríguez T, Rodríguez D, De Lucca M, Ramírez JL. Florez I, et al. Among authors: de lucca m. Clin Biochem. 2022 Nov-Dec;109-110:98-101. doi: 10.1016/j.clinbiochem.2022.09.007. Epub 2022 Sep 18. Clin Biochem. 2022. PMID: 36130631

7

Amiodarone and miltefosine act synergistically against Leishmania mexicana and can induce parasitological cure in a murine model of cutaneous leishmaniasis.

Serrano-Martín X, Payares G, De Lucca M, Martinez JC, Mendoza-León A, Benaim G. Serrano-Martín X, et al. Among authors: de lucca m. Antimicrob Agents Chemother. 2009 Dec;53(12):5108-13. doi: 10.1128/AAC.00505-09. Epub 2009 Oct 5. Antimicrob Agents Chemother. 2009. PMID: 19805563 Free PMC article.

8

Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.

De Lucca M, Pérez B, Desviat LR, Ugarte M. De Lucca M, et al. Hum Mutat. 1998;11(5):354-9. doi: 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W. Hum Mutat. 1998. PMID: 9600453

9

Spectrum and origin of phenylketonuria mutations in Spain.

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

10

Mutation analysis of phenylketonuria in south Brazil.

Pérez B, Desviat LR, De Lucca M, Schmidt B, Loghin-Grosso N, Giugliani R, Pires RF, Ugarte M. Pérez B, et al. Among authors: de lucca m. Hum Mutat. 1996;8(3):262-4. doi: 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0. Hum Mutat. 1996. PMID: 8889586 No abstract available.

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