Gort L - Search Results

1

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L, de Olano N, Macías-Vidal J, Coll MA; Spanish GM2 Working Group. Gort L, et al. Gene. 2012 Sep 10;506(1):25-30. doi: 10.1016/j.gene.2012.06.080. Epub 2012 Jul 10. Gene. 2012. PMID: 22789865

2

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

Macías-Vidal J, Gort L, Lluch M, Pineda M, Coll MJ. Macías-Vidal J, et al. Among authors: gort l. Mol Genet Metab. 2009 May;97(1):60-4. doi: 10.1016/j.ymgme.2009.01.007. Epub 2009 Feb 14. Mol Genet Metab. 2009. PMID: 19223215

3

Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.

Pérez Poyato MS, Milá Recansens M, Ferrer Abizanda I, Domingo Jiménez R, López Lafuente A, Cusí Sánchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L, Póo Argüelles P, Pineda Marfa M. Pérez Poyato MS, et al. Among authors: gort l. Gene. 2012 May 15;499(2):297-302. doi: 10.1016/j.gene.2012.02.013. Epub 2012 Feb 22. Gene. 2012. PMID: 22387303

4

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.

Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Pajares S, et al. Among authors: gort l. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. Mol Genet Metab. 2012. PMID: 22521955

5

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Cormand B, et al. Among authors: gort l. Am J Med Genet. 1997 Jun 27;70(4):437-43. doi: 10.1002/(sici)1096-8628(19970627)70:4<437::aid-ajmg19>3.0.co;2-i. Am J Med Genet. 1997. PMID: 9182788

6

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.

Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Cormand B, et al. Among authors: gort l. Hum Mutat. 1998;11(4):295-305. doi: 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6. Hum Mutat. 1998. PMID: 9554746

7

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D. Cormand B, et al. Among authors: gort l. Am J Med Genet. 1998 Dec 4;80(4):343-51. doi: 10.1002/(sici)1096-8628(19981204)80:4<343::aid-ajmg8>3.0.co;2-w. Am J Med Genet. 1998. PMID: 9856561 Review.

8

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

Gort L, Coll MJ, Chabás A. Gort L, et al. Hum Mutat. 1999;14(3):240-8. doi: 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L. Hum Mutat. 1999. PMID: 10477432

9

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.

Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L. Chabás A, et al. Among authors: gort l. Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8. doi: 10.1016/j.bcmd.2005.04.007. Blood Cells Mol Dis. 2005. PMID: 15967693

10

Mutational spectrum of classical galactosaemia in Spain and Portugal.

Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Girós M, Briones P. Gort L, et al. J Inherit Metab Dis. 2006 Dec;29(6):739-42. doi: 10.1007/s10545-006-0356-2. Epub 2006 Oct 14. J Inherit Metab Dis. 2006. PMID: 17041746

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