M. Lluch

发表

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing

A. Ribes, P. Briones, M. García-Silva, 2010, Journal of Inherited Metabolic Disease.

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

A. Ribes, R. Artuch, M. Pineda, 2010, Molecular genetics and metabolism.

Molecular analysis of 30 Niemann–Pick type C patients from Spain

D. Grinberg, L. Vilageliu, L. Rodríguez-Pascau, 2011, Clinical genetics.

Identification of 25 new mutations in 40 unrelated Spanish Niemann‐Pick type C patients: genotype‐phenotype correlations

C. Iturriaga, M. Pineda, M. Vanier, 2005, Clinical genetics.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

A. Ribes, P. Briones, W. Sperl, 2009, Journal of Inherited Metabolic Disease.

Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial β-oxidation defects

A. Ribes, M. Lluch, J. H. Osorio, 2003, Journal of Inherited Metabolic Disease.

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.

Daniel Grinberg, D. Grinberg, A. Chabás, 2009, Blood cells, molecules & diseases.

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

M. Pineda, L. Gort, M. Coll, 2009, Molecular genetics and metabolism.

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

T. Saheki, P. Briones, M. Vilaseca, 2001, Molecular genetics and metabolism.

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

A. Ribes, P. Briones, L. Gort, 2008, Molecular genetics and metabolism.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

L. de Meirleir, A. Ribes, W. Lissens, 2010, Clinical genetics.

Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient

T. Suormala, A. Ribes, P. Briones, 1990, European Journal of Pediatrics.

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

A. Ribes, P. Briones, A. Huckriede, 1997, Journal of Inherited Metabolic Disease.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

L. Gort, M. Vilaseca, E. Quintana, 2010, Clinical genetics.

Molecular analysis of 30 Niemann–Pick type C patients from Spain

L. Vilageliu, M. Lluch, Laura Rodríguez-Pascau, 2011, Clinical genetics.