A Chabas

Summary

Country: Spain

Publications

  1. 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
  2. ncbi request reprint A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom
    A Chabas
    Institut de Bioquimica Clinica, Hospital Clinic, Corporació Sanitària Clínic C Mejía Lequerica, S N, Edifici Helios III, 08028, Barcelona, Spain
    J Inherit Metab Dis 30:108. 2007
  3. ncbi request reprint Understanding the biology of X-linked diseases
    Amparo Chabas
    Instituto de Bioquimica Clinica, Corporació Sanitaria Clínic, Barcelona, Spain
    Acta Paediatr Suppl 95:9-10. 2006
  4. ncbi request reprint 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
    Amparo Chabas
    Institut de Bioquimica Clinica, Corporació Sanitaria Clínic, Mejía Lequerica, s n Edifici Helios III, planta baixa 08028 Barcelona, Spain
    Blood Cells Mol Dis 35:253-8. 2005
  5. ncbi request reprint Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation
    A Chabas
    Institut de Bioquimica Clinica, Barcelona, Spain
    Am J Med Genet 100:223-8. 2001
  6. ncbi request reprint New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
    A Rodriguez-Mari
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Av Diagonal 645, Barcelona, E 08028, Spain
    Blood Cells Mol Dis 27:950-9. 2001
  7. ncbi request reprint Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis
    L Gort
    Institut de Bioquimica Clinica, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
    Clin Genet 72:109-11. 2007
  8. doi request reprint Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
    I Canals
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Clin Genet 80:367-74. 2011
  9. ncbi request reprint Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
    P Briones
    Institut de Bioquimica Clinica, Barcelona, Spain
    Eur J Paediatr Neurol 5:127-31. 2001
  10. ncbi request reprint Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America
    R Santamaria
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Clin Genet 71:273-9. 2007

Collaborators

Detail Information

Publications14

  1. 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...
  2. ncbi request reprint A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom
    A Chabas
    Institut de Bioquimica Clinica, Hospital Clinic, Corporació Sanitària Clínic C Mejía Lequerica, S N, Edifici Helios III, 08028, Barcelona, Spain
    J Inherit Metab Dis 30:108. 2007
    ..E325K (c.973G>A) in exon 8. The description of this new case broadens the clinical spectrum of the infantile forms and indicates that Schindler disease should be considered in the diagnosis of metabolic cardiomyopathies...
  3. ncbi request reprint Understanding the biology of X-linked diseases
    Amparo Chabas
    Instituto de Bioquimica Clinica, Corporació Sanitaria Clínic, Barcelona, Spain
    Acta Paediatr Suppl 95:9-10. 2006
  4. ncbi request reprint 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
    Amparo Chabas
    Institut de Bioquimica Clinica, Corporació Sanitaria Clínic, Mejía Lequerica, s n Edifici Helios III, planta baixa 08028 Barcelona, Spain
    Blood Cells Mol Dis 35:253-8. 2005
    ..During the mutational analysis of the series of type 2 patients, a novel mutation, I260T (c.896T>C), was identified...
  5. ncbi request reprint Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation
    A Chabas
    Institut de Bioquimica Clinica, Barcelona, Spain
    Am J Med Genet 100:223-8. 2001
    ..Chromosomes bearing mutation 1091delC show a conserved haplotype suggesting a common origin for this mutation. Moreover, all other mutations found twice or more also have conserved haplotypes for those polymorphic markers...
  6. ncbi request reprint New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
    A Rodriguez-Mari
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Av Diagonal 645, Barcelona, E 08028, Spain
    Blood Cells Mol Dis 27:950-9. 2001
    ..Here we describe that it is also present with a similar frequency in Spain. Moreover, most of the 5470A alleles are found within particular haplotypes, which have some differences from the common N370S haplotype...
  7. ncbi request reprint Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis
    L Gort
    Institut de Bioquimica Clinica, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Barcelona, Spain
    Clin Genet 72:109-11. 2007
    ..2% of Basque and in 0.8% of non-Basque alleles. The detection of the presence of alterations resulting in pseudodeficient activity in leukocytes and plasma is important for the correct diagnosis of GM1 gangliosidosis...
  8. doi request reprint Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
    I Canals
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Clin Genet 80:367-74. 2011
    ..Haplotype analyses suggested that the two mutations (c.234+1G>A and c.372-2A>G) that were present in more than one patient have a common origin, including one (c.234+1G>A) that was found in Spanish and Moroccan patients...
  9. ncbi request reprint Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
    P Briones
    Institut de Bioquimica Clinica, Barcelona, Spain
    Eur J Paediatr Neurol 5:127-31. 2001
    ..Routine screening for CDG may avoid precocious invasive investigations...
  10. ncbi request reprint Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America
    R Santamaria
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Clin Genet 71:273-9. 2007
    ..L155R. The juvenile patient bore two novel mutations: p.S434L and p.G554E. The two Gypsy patients are homozygous for the p.R59H mutation as are all Gypsy patients previously genotyped...
  11. ncbi request reprint Hunter disease in the Spanish population: molecular analysis in 31 families
    L Gort
    Institut de Bioquimica Clinica, C Mejía Lequerica, Barcelona, Spain
    J Inherit Metab Dis 21:655-61. 1998
    ....
  12. ncbi request reprint Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant
    T Pampols
    Institut de Bioquimica Clinica, Corporacio Sanitaria, Barcelona, Spain
    Acta Neuropathol 97:91-7. 1999
    ..Studying the phenotypic consequences of mutant sphingolipid activator proteins is critical to a better understanding of the physiological significance of these proteins...
  13. ncbi request reprint Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings
    A Chabas
    Institut de Bioquimica Clinica, Cerdanyola, Barcelona
    J Inherit Metab Dis 17:724-31. 1994
    ..These findings confirm the heterogeneity of alpha-N-acetylgalactosaminidase deficiency and emphasize the need to consider this lysosomal storage disease in the differential diagnosis of patients with angiokeratoma...
  14. ncbi request reprint Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
    P Briones
    Institut de Bioquimica Clinica, Corporació Sanitaria Clínic, Barcelona, Spain
    J Inherit Metab Dis 25:635-46. 2002
    ..This points to the necessity of widening the criteria for CDG in the routine screening for inborn metabolic diseases...