Amparo Chabás

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

Amparo Chabás, Bru Cormand, Daniel Grinberg et al. · Journal of Medical Genetics · 1995 · 124 citations · Full text

Life Sciences, Genetics, Neurology +16

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

Magda Montfort, Amparo Chabás, Lluı̈sa Vilageliu et al. · Human Mutation · 2004 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Adriana Rodríguez‐Marí, M. José Coll, Amparo Chabás · Human Mutation · 2003 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Raül Santamaría, Amparo Chabás, María Josep Coll et al. · Human Mutation · 2006 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Pilar Giraldo, Pilar Alfonso, Pilar Irún et al. · Orphanet Journal of Rare Diseases · 2012 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17