Laura Gort

Summary

Country: Spain

Publications

  1. doi request reprint Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis
    Laura Gort
    Secció Errors Congènits del Metabolisme IBC, Serv Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Barcelona, Spain
    Prenat Diagn 32:1139-42. 2012
  2. ncbi request reprint GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients
    Laura Gort
    Errors Congènits del Metabolisme IBC, Serv Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
    Gene 506:25-30. 2012
  3. pmc Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
    Pilar Giraldo
    Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain
    Orphanet J Rare Dis 7:17. 2012
  4. doi request reprint Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
    Judit 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
  5. doi request reprint Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds
    Gustavo 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
  6. doi request reprint [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
  7. pmc Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients
    Laura Rodríguez-Pascau
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Hum Mutat 30:1117-22. 2009
  8. doi request reprint Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
    Sonia 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
  9. doi request reprint Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients
    María S Pérez-Poyato
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
    J Child Neurol 28:470-8. 2013
  10. doi request reprint Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series
    Maria Socorro Pérez Poyato
    Department of Pediatric Neurology, Hospital de Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
    Gene 499:297-302. 2012

Collaborators

  • Daniel Grinberg
  • María S Pérez-Poyato
  • Gustavo Tiscornia
  • Laia Rodriguez-Revenga
  • M Josep Coll Rosell
  • Isidre Ferrer Abizanda
  • Victoria Cusí Sánchez
  • Maria Socorro Pérez Poyato
  • Sonia Pajares
  • Pilar Giraldo
  • Antonia Ribes
  • Montserrat Mila
  • Merce Pineda
  • Amparo Chabas
  • Lluisa Vilageliu
  • Judit Garcia-Villoria
  • Judit Macías-Vidal
  • Laura Rodríguez-Pascau
  • M Mar García González
  • María J Martínez González
  • José Manuel García Fernández
  • Erika Lorenzo Vivas
  • Merce Pineda Marfa
  • Montserrat Barragan Monasterio
  • Elena Martín Hernandez
  • Anna Veiga
  • Leslie Matalonga
  • Juan Carlos Izpisua Belmonte
  • Alfonso Verdú Pérez
  • Cristina Eguizabal
  • Antonio Martínez Bermejo
  • Ina Berniakovich
  • Carmen Ortiz Mellet
  • Jesús Eiris Puñal
  • Federico Gonzalez
  • Montserrat Milà Recansens
  • Miguel Pocovi
  • Pilar Póo Argüelles
  • Ma José Coll
  • Encarna Guillén
  • Ma Luz Couce
  • Clara M Sá Miranda
  • Antonio Gonzalez-Meneses
  • Mercè Pineda Marfà
  • Rosario Domingo Jimenez
  • Pilar Alfonso
  • Mireia Del Toro
  • Carlos Alcalde
  • Guillem Pintos
  • Pilar Irún
  • Amparo López Lafuente
  • Jaume Campistol
  • Irene Madrigal
  • Aleix Navarro-Sastre
  • Carme Fons
  • Paz Briones
  • Cristina Fernandez
  • Angeles García-Cazorla
  • Montse Lluch
  • Maria Josep Coll
  • Edward H Schuchman

Detail Information

Publications13

  1. doi request reprint Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis
    Laura 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...
  2. ncbi request reprint GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients
    Laura 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...
  3. pmc Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
    Pilar 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...
  4. doi request reprint Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
    Judit 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...
  5. doi request reprint Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds
    Gustavo 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...
  6. doi request reprint [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...
  7. pmc Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients
    Laura 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...
  8. doi request reprint Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
    Sonia 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...
  9. doi request reprint Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients
    María 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...
  10. doi request reprint Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series
    Maria 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...
  11. doi request reprint An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families
    Laura 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...
  12. ncbi request reprint Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation
    Laura 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...
  13. pmc X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency
    Judit 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...