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American Journal of Medical Genetics|June 27, 1997
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analysesB Cormand, D Grinberg, L Gort, et al.
Blood Cells, Molecules & Diseases|January 11, 2002
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 Rodríguez-Marí, A Díaz-Font, A Chabás, et al.
Journal of Medical Genetics|September 11, 1998
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysisA Chabás, L Gort, M Montfort, et al.
Human Mutation|January 1, 1995
Gaucher disease in Spanish patients: analysis of eight mutationsB Cormand, L Vilageliu, J M Burguera, et al.
American Journal of Medical Genetics|May 9, 2001
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutationA Chabás, M Montfort, M Martínez-Campos, et al.
Human Mutation|September 23, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patientsM Montfort, L Vilageliu, N Garcia-Giralt, et al.
Pancreas|April 1, 1997
Chloroquine stabilizes pancreatic lysosomes and improves survival of mice with diet-induced acute pancreatitisS Guillaumes, I Blanco, A Villanueva, et al.
Gastroenterologia Y Hepatologia|March 1, 1996
[Activity and subcellular distribution of lysosomal enzymes in acute pancreatitis induced by CDE diet in mice]S Guillaumes, I Blanco, A Villanueva, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|August 14, 1999
Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sisterJ R Ara, E Mayayo, M E Marzo, et al.
Archives of Dermatology|October 1, 1996
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiencyM Rodríguez-Serna, R Botella-Estrada, A Chabás, et al.
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