A. Chabás

发表

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

G. Matthijs, R. Wevers, P. Briones, 2007, Molecular genetics and metabolism.

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.

L. Gort, D. Grinberg, A. Chabás, 2005, Blood cells, molecules & diseases.

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients

B. Cormand, N. Chamoles, D. Grinberg, 2003, Human Genetics.

An evolutionary and structure‐based docking model for glucocerebrosidase–saposin C and glucocerebrosidase–substrate interactions—Relevance for Gaucher disease

P. Gómez-Puertas, E. López-Viñas, D. Grinberg, 2008, Proteins.

Activator protein deficient Gaucher's disease

A. Chabás, H. Christomanou, T. Pàmpols, 1989, Klinische Wochenschrift.

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

E. Schaftingen, G. Matthijs, R. Artuch, 2003, Journal of Inherited Metabolic Disease.

Twenty‐one novel mutations in the GLB1 gene identified in a large group of GM1‐gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

D. Grinberg, A. Chabás, R. Santamaría, 2006, Human mutation.

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients Published, JLR Papers in Press, July 30, 2007.

J. Callahan, D. Grinberg, A. Chabás, 2007, Journal of Lipid Research.

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America

D. Grinberg, A. Chabás, R. Santamaría, 2007, Clinical genetics.

[Type C Niemann-Pick disease].

A. Chabás, M. Pinan, J. Prats, 1991, Sangre.

Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

L. Gort, A. Chabás, M. Coll, 2006, Molecular genetics and metabolism.

Angiokeratoma Corporis Diffusum Associated With ß-Mannosidase Deficiency

R. Botella-Estrada, A. Chabás, M. Coll, 1996 .

Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.

R. Botella-Estrada, A. Chabás, M. Coll, 1996, Archives of dermatology.

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

W. Sly, R. Vervoort, W. Lissens, 1996, American Journal of Human Genetics.

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

W. Sly, R. Vervoort, R. Wevers, 1995, American journal of human genetics.

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female

A. Rodríguez-Marí, A. Chabás, M. Coll, 2003, Human mutation.

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis

E. Tolosa, E. Muñoz, J. Campdelacreu, 2002, Movement disorders : official journal of the Movement Disorder Society.

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

D. Grinberg, A. Chabás, M. Montfort, 2006, Blood cells, molecules & diseases.

A Pseudodeficiency Allele (D I 52N) of the Human p-Glucuronidase Gene

W. Sly, R. Wevers, I. Liebaers, 2007 .

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis

L. Gort, D. Grinberg, A. Chabás, 2007, Clinical genetics.

Lowβ-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII

A. Chabás, M. Girós, A. Guardiola, 1991, Journal of Inherited Metabolic Disease.

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

A. Chabás, A. García‐Díez, J. Fernández‐Herrera, 2002, The British journal of dermatology.

Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant

F. Sanmartí, M. Pineda, I. Ferrer, 1999, Acta Neuropathologica.

Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

U. Schepers, K. Sandhoff, A. Chabás, 1996, American journal of human genetics.

On the mechanism of carbamoylphosphate synthetase.

S. Grisolía, R. Silverstein, A. Chabás, 1972, European journal of biochemistry.

deficiency: new mutations andtheparadox between genotypeandphenotype

Yoshiyuki Suzuki, D. Schindler, R. Wevers, 2011 .

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

L. Gort, A. Chabás, M. Coll, 2007, Molecular genetics and metabolism.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases the nomenclature used for neutral glycolipids follows the IUPAC-IUB recommendation (1). DOI 10.1194/jlr.M100423-JLR200

R. Desnick, D. Schindler, A. Chabás, 2002, Journal of Lipid Research.

Effect of carbamyl phosphate on stability of some enzymes of the urea cycle; high sensitivity of glutamate dehydrogenase

S. Grisolía, A. Chabás, A. Chabás, 1972, FEBS letters.

Chloroquine Stabilizes Pancreatic Lysosomes and Improves Survival of Mice with Diet‐Induced Acute Pancreatitis

P. Clavé, M. Sans, A. Villanueva, 1997, Pancreas.

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

B. Cormand, J. Hopwood, D. Grinberg, 2008, Molecular genetics and metabolism.

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.

Mild phenotypic expression of α-N-acetylgalactosaminidase deficiency in two adult siblings

E. Díaz, A. Chabás, M. Aparicio, 1994, Journal of Inherited Metabolic Disease.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

A. V. D. van den Ouweland, D. Schindler, R. Wevers, 1996, Journal of medical genetics.

Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.

A. Chabás, M. Aparicio, M. J. Coll, 1994, Journal of Inherited Metabolic Disease.

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

L. Gort, D. Grinberg, A. Chabás, 2012, Orphanet Journal of Rare Diseases.

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

B. Cormand, D. Grinberg, A. Chabás, 1999, American journal of human genetics.

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome

B. Cormand, L. Gort, D. Grinberg, 1998, Human mutation.

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

J. Sobrino, J. Merino, B. Cormand, 1995, Journal of medical genetics.

Gaucher disease in Spanish patients: Analysis of eight mutations

B. Cormand, D. Grinberg, S. Balcells, 1995, Human mutation.

RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases.

D. Grinberg, A. Chabás, A. Díaz-Font, 2006, Blood cells, molecules & diseases.

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms

D. Grinberg, A. Chabás, M. Montfort, 2004, Human mutation.

A Pseudodeficiency Allele ( DI 52 N ) of the Human ß-Glucuronidase Gene

W. Sly, R. Vervoort, R. Wevers, 2018 .

A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom

L. Gort, A. Chabás, J. Duque, 2007, Journal of Inherited Metabolic Disease.

Extraordinary bone involvement in a Gaucher disease type I patient

R. Barone, V. Pavone, A. Chabás, 2000, British journal of haematology.

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

N. Chamoles, D. Grinberg, A. Chabás, 2005, Molecular genetics and metabolism.

Hunter disease in the Spanish population: Molecular analysis in 31 families

L. Gort, A. Chabás, M. J. Coll, 1998, Journal of Inherited Metabolic Disease.

Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation

L. Gort, A. Chabás, M. Coll, 1998, Human mutation.

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)

K. Sandhoff, A. Chabás, M. Henseler, 2000, Journal of Inherited Metabolic Disease.

Imaging features of type-B Niemann-Pick disease

A. Chabás, M. Herrera, A. Galmés, 1997, European Radiology.

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

B. Cormand, N. Chamoles, L. Gort, 1998, American journal of medical genetics.

Mutations in the iduronate‐2‐sulfatase gene in 12 Spanish patients with hunter disease

L. Gort, A. Chabás, M. Coll, 1998, Human mutation.

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype–phenotype correlation studies in spanish metachromatic leukodystrophy patients

L. Gort, A. Chabás, M. Coll, 1999, Human mutation.

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

W. Sly, R. Froissart, P. Natale, 2006, European Journal of Human Genetics.

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

B. Cormand, D. Grinberg, A. Chabás, 2005, Human Genetics.

Genetic fine localization of the β-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

B. Cormand, D. Grinberg, A. Chabás, 1997, Human Genetics.

β‐glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

A. Chabás, A. Guardiola, 1993 .

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations

A. Chabás, M. Coll, C. Antón, 2001, Journal of Inherited Metabolic Disease.

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

M. Pineda, D. Grinberg, A. Chabás, 2011, Clinical genetics.

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

B. Cormand, C. Domínguez, D. Grinberg, 2007, Molecular genetics and metabolism.

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

M. Pineda, J. Jaeken, P. Briones, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

M. Pineda, J. Jaeken, M. Vilaseca, 1996, Archives of disease in childhood.

Identification and characterization of SMPD1 mutations causing Niemann‐Pick types A and B in Spanish patients

E. Schuchman, L. Gort, D. Grinberg, 2009, Human mutation.

Reliable co‐segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease

B. Cormand, D. Grinberg, A. Chabás, 1998, Prenatal diagnosis.

[Evolutive neuroradiological alterations in Sandhoff's disease].

J. López-Terradas, J. García-Peñas, A. Chabás, 1996, Revista de neurologia.

Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: A case report

A. Chabás, F. Alvarado, L. Albajara, 2006, Journal of inherited metabolic disease.

On the age of the most prevalent Gaucher disease-causing mutation, N370S.

B. Cormand, D. Grinberg, A. Chabás, 2000, American journal of human genetics.

Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

L. Gort, D. Grinberg, A. Chabás, 1998, Journal of medical genetics.

Expression and functional characterization of human mutant sulfamidase in insect cells.

J. Hopwood, D. Grinberg, A. Chabás, 2004, Molecular genetics and metabolism.

Neurological impairment in α-mannosidosis: a longitudinal clinical and MRI study of a brother and sister

A. Chabás, M. A. Pina, E. Mayayo, 1999, Child's Nervous System.

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

S. Grossi, M. Filocamo, D. Grinberg, 2008, Human mutation.

A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy

D. Grinberg, A. Chabás, M. Montfort, 2005 .

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

B. Cormand, L. Gort, D. Grinberg, 1997, American journal of medical genetics.

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

B. Cormand, D. Grinberg, S. Balcells, 1996, Journal of Inherited Metabolic Disease.

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

B. Cormand, D. Grinberg, A. Chabás, 2003, Blood cells, molecules & diseases.