Carla Asteggiano

MAN1B1 Deficiency: An Unexpected CDG-II

Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón et al. · PLoS Genetics · 2013 · 87 citations · Full text

Metabolic Disorder, Genetics, Glycobiology +17

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Patricia Sarrión, Anna Sangorrin, Roser Urreizti et al. · Scientific Reports · 2013 · 50 citations · Full text

Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, <i>SLC35A1</i>

Bobby G. Ng, Carla Asteggiano, Martin Kircher et al. · American Journal of Medical Genetics Part A · 2017 · 36 citations · Full text

Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev et al. · Journal of Inherited Metabolic Disease · 2020 · 36 citations · Full text

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Roser Urreizti, Carla Asteggiano, Marta Bermúdez et al. · Journal of Human Genetics · 2006 · 32 citations · Full text

South America, Mendelian Disorder, Genetic Disorder +11