Eduardo Gutiérrez‐Rivas

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Amets Sáenz, France Leturcq, A.M. Cobo et al. · Brain · 2005 · 179 citations · Full text

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Susana Ferreira, Alberto Ortíz, Dominique P. Germain et al. · Molecular Genetics and Metabolism · 2014 · 88 citations · Full text

Family Studies, Individual Patients, Mendelian Disorder +12

Controlled and uncontrolled thrombocytosis.Its clinical role in essential thrombocythemia

Juan J. Lahuerta-Palacios, Rafael Bornstein, Francisco J. Fernández-Debora et al. · Cancer · 1988 · 84 citations

Essential Thrombocythemia, Cerebrovascular Disease, Thrombosis +18

Respiratory chain enzyme activities in lymphocytes from untreated patients with Parkinson disease

Natalia Barroso, Yolanda Campos, Rosa Huertas et al. · Clinical Chemistry · 1993 · 82 citations

Asthma, Mitophagy, Neurodegenerative Diseases +11

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Eduardo Gutiérrez‐Rivas, J. Bautista, Juan J. Vílchez et al. · Neuromuscular Disorders · 2015 · 59 citations

Pompe Disease, Disease Diagnosis, Spanish Cohort +8