A. Chabás

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

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease

L. Gort, D. Grinberg, R. Santamaría, 2006, Journal of Inherited Metabolic Disease.

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.

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.

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.

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

D. Grinberg, N. Garcia-Giralt, M. Montfort, 1998, Human mutation.

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.

D. Grinberg, M. Montfort, L. Vilageliu, 2001, American 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.

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

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

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.

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.

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.

D. Grinberg, G. Pastores, A. Díaz-Font, 2001, Blood cells, molecules & diseases.

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.

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.

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

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

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.

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.

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.

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.

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

M. Bayés, G. Marfany, W. Lissens, 1993, Clinical genetics.

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.

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.

Imaging features of type-B Niemann-Pick disease

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

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.

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β‐glucocerebrosidase gene in Gaucher's disease patients

B. Cormand, D. Grinberg, S. Balcells, 1996 .

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 new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.

B. Cormand, D. Grinberg, L. Vilageliu, 2000, Blood cells, molecules & diseases.

Extraordinary bone involvement in a Gaucher disease type I patient

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

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.

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.

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.

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.

Activator protein deficient Gaucher's disease

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

Thermodynamic determination of β‐hexosaminidase isoenzymes in mononuclear and polymorphonuclear leukocyte populations

J. Casal, J. Tutor, A. Chabás, 2003, American journal of medical genetics. Part A.