A Baldellou

Mutations and variants in the cohesion factor genes <i>NIPBL</i>, <i>SMC1A</i>, and <i>SMC3</i> in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

Juan Pié, María Concepción Gil‐Rodríguez, Milagros Ciero et al. · American Journal of Medical Genetics Part A · 2010 · 82 citations · Full text

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

Belén Pérez, Alejandra Gámez, Ana M. Sánchez et al. · European Journal of Human Genetics · 1999 · 61 citations · Full text

Mendelian Disorder, Biochemistry, Genetic Disorder +9

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

Judit García‐Villoria, Aleix Navarro‐Sastre, Carme Fons et al. · Clinical Biochemistry · 2008 · 40 citations

Inherited Metabolic Disease, Hematology, Pathology +2

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

Roser Urreizti, Susana Balcells, M. Rodés et al. · Human Mutation · 2003 · 30 citations · Full text

Characterization of Six Mutations in Five Spanish Patients with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Effects of Amino Acid Substitutions on Tertiary Structure

Toshiyuki Fukao, Haruki Nakamura, Kozue Nakamura et al. · Molecular Genetics and Metabolism · 2002 · 26 citations

Mendelian Disorder, Biochemistry, Mitochondrial Function +10