M. Estela Rubio‐Gozalbo

<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha et al. · New England Journal of Medicine · 2013 · 195 citations · Full text

Bone Disease, Sclerostin, Bone Health +13

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon et al. · Journal of Inherited Metabolic Disease · 2011 · 184 citations · Full text

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double‐blind, placebo‐controlled, crossover trial

Amber E. ten Hoedt, Leo de Sonneville, Baudouin François et al. · Journal of Inherited Metabolic Disease · 2010 · 156 citations · Full text

Neuropsychology, Psychopharmacology, Neuropsychiatry +16

The natural history of classic galactosemia: lessons from the GalNet registry

M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch et al. · Orphanet Journal of Rare Diseases · 2019 · 141 citations · Full text

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Genetic Disorder, Genetics, Progressive Brain Atrophy +7