Research Topics
Genomes and GenesSpecies | A ChabasSummaryCountry: Spain Publications
| Collaborators
|
Detail Information
Publications
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...
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptomA 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...- Understanding the biology of X-linked diseasesAmparo Chabas
Instituto de Bioquimica Clinica, Corporació Sanitaria Clínic, Barcelona, Spain
Acta Paediatr Suppl 95:9-10. 2006 - 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 diseaseAmparo 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... - Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutationA 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... - 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 polymorphismsA 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... - Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosisL 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... - Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial diseaseP Briones
Institut de Bioquimica Clinica, Barcelona, Spain
Eur J Paediatr Neurol 5:127-31. 2001..Routine screening for CDG may avoid precocious invasive investigations... - Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South AmericaR 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... - Hunter disease in the Spanish population: molecular analysis in 31 familiesL Gort
Institut de Bioquimica Clinica, C Mejía Lequerica, Barcelona, Spain
J Inherit Metab Dis 21:655-61. 1998.... - Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variantT 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... - Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblingsA 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... 
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant allelesI 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...- Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaP 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...