Genomes and Genes
- Natural history of Sanfilippo syndrome in SpainVerónica Delgadillo
Neuropediatrics Department, Hospital Sant Joan de Deu, Barcelona, Spain
Orphanet J Rare Dis 8:189. 2013....
- Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalisLaura Gort
Secció Errors Congènits del Metabolisme IBC, Serv Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Barcelona, Spain
Prenat Diagn 32:1139-42. 2012..It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF...
- GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patientsLaura Gort
Errors Congènits del Metabolisme IBC, Serv Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
Gene 506:25-30. 2012..All patients with this deletion showed the infantile form of the disease. The Spanish GM2 gangliosidoses affected patients show a great mutational heterogeneity as seen in other inherited lisosomal diseases in this country...
- Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian PeninsulaPilar Giraldo
Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain
Orphanet J Rare Dis 7:17. 2012..Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics...
- Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from SpainJudit Macías-Vidal
Institut de Bioquimica Clinica, Hospital Clinic, Servei de Bioquímica i Genètica Molecular, C Mejía Lequerica s n, Ed Helios III Planta baixa, 08028 Barcelona, Spain
Mol Genet Metab 97:60-4. 2009..In conclusion, we confirmed that NMD process is responsible for the mRNA decay for all the analyzed NPC1 PTC-encoding mutations...
- Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compoundsGustavo Tiscornia
Center of Regenerative Medicine in Barcelona, Biochemistry and Molecular Genetics Department and IDIBAPS, Hospital Clinic, Barcelona, Spain
Hum Mol Genet 22:633-45. 2013..Using our system as a platform to test chemical compounds capable of increasing acid-β-glucosidase activity, we confirm that two nojirimycin analogues can rescue protein levels and enzyme activity in the cells affected by the disease...
- [Diagnosis, biomarkers and biochemical alterations in Gaucher's disease]Laura Gort
Sección de Errores Congénitos del Metabolismo IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clinic, CIBERER U737, Institut d Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain
Med Clin (Barc) 137:12-6. 2011..Chitotriosidase activity is the most widely used biomarker for the assessment of GD, and for patients homozygous for the null CHIT1 gene variants, in general, is replaced by the analysis of the biomarker CCL18...
- Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo diseaseLeslie Matalonga
Secció d Errors Congènits del Metabolisme IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, CIBER de Enfermedades Raras CIBERER, Edifici Helios III, Planta Baixa, C Mejía Lequerica s n, 08028, Barcelona, Spain
J Inherit Metab Dis 37:439-46. 2014..Our results are encouraging as some cellular alterations observed in Sanfilippo syndrome can be partially restored by CoQ10 or other antioxidant treatment in some patients. ..
- Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in SpainSonia Pajares
Sección de Errores Congénitos del Metabolismo IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clinic, CIBERER, IDIBAPS, Barcelona, Spain
Mol Genet Metab 106:196-201. 2012..We found great allelic heterogeneity, as occurs in other populations, which hinders the establishment of genotype-phenotype correlations in Spain. This study has been very useful for genetic counseling to the affected families...
- Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patientsLaura Rodríguez-Pascau
Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
Hum Mutat 30:1117-22. 2009..This study is the first exhaustive mutational analysis of Spanish Niemann-Pick A/B disease patients...
- Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patientsMaría S Pérez-Poyato
Department of Pediatric Neurology, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
J Child Neurol 28:470-8. 2013..5 years). Patients showed blindness and lost sitting ability at similar age (median 5 years). The authors report 4 novel mutations in the CLN2 gene. This study provides detailed information about the natural history of this disease...
- Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish seriesMaria Socorro Pérez Poyato
Department of Pediatric Neurology, Hospital de Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
Gene 499:297-302. 2012..Early diagnosis is essential in order to provide genetic counselling to affected families. Our series may contribute to the study of the genotype-phenotype INCL correlation in the Mediterranean countries...
- An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new familiesLaura Gort
Institut de Bioquimica Clinica, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, España CIBER de Enfermedades Raras CIBERER, Barcelona, Espana
Med Clin (Barc) 132:709-11. 2009..We previously reported molecular analysis of 83 Spanish and Portuguese unrelated galactosaemic patients. Here we present the results of another seventeen unreported affected individuals...
- Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutationLaura Gort
Institut de Bioquimica Clinica, Hospital Clinic, C Mejía Lequerica s n, Edifici Helios III, 08028 Barcelona, Spain
Mol Genet Metab 92:183-7. 2007..32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype...
- X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiencyJudit Garcia-Villoria
Sección de Errores Congénitos del Metabolismo IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clinic, IDIBAPS, Barcelona, Spain
Eur J Hum Genet 18:1353-5. 2010..In conclusion, these results suggest that the HSD17B10 gene does not escape X-inactivation as has been reported previously...