Enrique Galán‐Gómez

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

Carlos Alcalde Martín, J.M. Muro-Tudelilla, Ramón Cancho‐Candela et al. · European Journal of Medical Genetics · 2010 · 44 citations

Enzyme Replacement Therapy, Inherited Metabolic Disease, Pathology +3

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum

Rebecca Sutphen, Enrique Galán‐Gómez, Xavier Cortada et al. · Clinical Genetics · 1995 · 34 citations

Biology, Gross Anatomy, Oavs Patients +10

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

Encarna Guillén‐Navarro, Rosario Domingo‐Jiménez, Carlos Alcalde Martín et al. · Orphanet Journal of Rare Diseases · 2013 · 25 citations · Full text

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome

Enrique Galán‐Gómez, E Blesa Sánchez, Sonia Arias-Castro et al. · European Journal of Medical Genetics · 2007 · 21 citations

Developmental Anomaly, Martínez-frías Syndrome, Biliary Tract +8

Waardenburg syndrome type 4: Report of two new cases caused by <i>SOX</i><i>10</i> mutations in Spain

Raquel M. Fernández, Raquel Núñez‐Ramos, Ma Valle Enguix‐Riego et al. · American Journal of Medical Genetics Part A · 2013 · 21 citations