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Prenatal Diagnosis|June 1, 1993
beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluidA Chabás, A GuardiolaDevelopmental Neuroscience|January 1, 1980
Prenatal human brain development. II. Studies on malate dehydrogenaseA Chabás, P Briones, J SabaterJournal of Inherited Metabolic Disease|December 16, 2006
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptomA Chabás, J Duque, L GortHuman Mutation|September 8, 1999
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patientsL Gort, M J Coll, A ChabásHuman Mutation|April 24, 1999
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. OnlineL Gort, A Chabás, M J CollBiochemistry International|August 1, 1987
An activator protein of oligosaccharide sialidaseA Chabás, A Guardiola, J M BurgueraJournal of Inherited Metabolic Disease|October 8, 1998
Hunter disease in the Spanish population: molecular analysis in 31 familiesL Gort, A Chabás, M J CollEuropean Radiology|January 1, 1997
Imaging features of type-B Niemann-Pick diseaseL Muntaner, A Galmés, A Chabás, et al.Klinische Wochenschrift|October 2, 1989
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorderH Christomanou, A Chabás, T Pámpols, et al.Human Mutation|April 29, 1998
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosomeB Cormand, D Grinberg, L Gort, et al.Pageof 5