Miguel Ángel Torralba

β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia

Miguel Pocovı́, Ana Cenarro, Fernando Civeira et al. · The Lancet · 1998 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

Rosario Sánchez‐Martínez, Adriana Iriarte, José María Mora‐Luján et al. · Orphanet Journal of Rare Diseases · 2020 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

Miguel Ángel Torralba, Juan Ignacio Pérez‐Calvo, Gregory M. Pastores et al. · Blood Cells Molecules and Diseases · 2001 · 30 citations

Life Sciences, Genetics, Molecular Genetics +12

High Prevalence of the 55-bp Deletion (c.1263del55) in Exon 9 of the Glucocerebrosidase Gene Causing Misdiagnosis (for Homozygous N370S (c.1226A > G) Mutation) in Spanish Gaucher Disease Patients

Miguel Ángel Torralba, Pilar Alfonso, Juan Ignacio Pérez‐Calvo et al. · Blood Cells Molecules and Diseases · 2002 · 20 citations

Life Sciences, Genetics, Molecular Genetics +8

Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease

Miguel Ángel Torralba, Susana Olivera, Juan Carlos Bureo et al. · QJM · 2016 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16