Author

M. Estela Rubio‐Gozalbo

Observed names: E. Rubio-Gozalbo, E. Rubio-gozalbo, E. Rubio‐Gozalbo, Estela M. Rubio Gozalbo, Estela M. Rubio-gozalbo, Estela M. Rubio‐Gozalbo, Estela R. Gozalbo, Estela Rubio, Estela Rubio Gozalbo, Estela Rubio-Gozalbo, Estela Rubio-Gozalbo, M., Estela Rubio-gozalbo, Estela Rubio‐Gozalbo, Gozalbo, Estela R., M E Rubio-Gozalbo, M Estela Rubio-Gozalbo, M Estela Rubio-gozalbo, M RUBIOGOZALBO, M Rubio-Gozalbo, M. E. Rubio Gozalbo, M. E. Rubio-Gozalbo, M. E. Rubio-gozalbo, M. E. RubioGozalbo, M. E. Rubio‐Gonzalbo, M. E. Rubio‐Gozalbo, M. Estela Rubio Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-gozalbo, M. Estela Rubio–Gozalbo, M. Gozalbo, M. Rubio-Cozalbo, M. Rubio-Gozalbo, M.E Rubio-Gozalbo, M.E. Rubio Gozalbo, M.E. Rubio-Gozalbo, M.E. Rubio–Gozalbo, M.E., Rubio-Gozalbo, M. Estela Rubio-Gozalbo, ME Rubio‐Gozalbo, Maria E. Rubio-Gozalbo, Maria E. Rubio‐Gozalbo, Maria Estela Rubio, Maria Estela Rubio-Gozalbo, Maria Estela Rubio-gozalbo, Maria Estela Rubio‐Gozalbo, Rubio Gozalbo, Estela, Rubio Gozalbo, M. Estela, Rubio-Gozalbo, Estela, Rubio-Gozalbo, M E, Rubio-Gozalbo, M Estela, Rubio-Gozalbo, M., Rubio-Gozalbo, M. E., Rubio-Gozalbo, M. Estela, Rubio-Gozalbo, M.E., Rubio-Gozalbo, ME

Observed institutions: Radboud University Nijmegen, Maastricht University Medical Centre, Amsterdam UMC Location University of Amsterdam, Radboud University Medical Center, University Medical Center Utrecht, Maastricht University, Emma Kinderziekenhuis, Memorial Health University Medical Center, MetabERN

ORCID: 0000-0001-7182-4056

Observed ORCID: 0000-0001-7182-4056

OpenAlex ID: A5091663656

Galactose metabolism and health

2015 · Ana I. Coelho, Gerard T. Berry, et al. · Current Opinion in Clinical Nutrition & Metabolic Care · 225

PLS3 Mutations in X-Linked Osteoporosis with Fractures

2013 · Fleur S. van Dijk, M. Carola Zillikens, et al. · New England Journal of Medicine · 199

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

2016 · Lindsey Welling, Laurie E. Bernstein, et al. · Journal of Inherited Metabolic Disease · 194

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

1999 · R. H. Triepels, L. P. Van Den Heuvel, et al. · Annals of Neurology · 193

The adult galactosemic phenotype

2011 · Susan E. Waisbren, Nancy L. Potter, et al. · Journal of Inherited Metabolic Disease · 184

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

2010 · Amber E. ten Hoedt, Leo M. J. de Sonneville, et al. · Journal of Inherited Metabolic Disease · 164

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

2019 · M. E. Rubio-Gozalbo, M. Haskovic, et al. · Orphanet Journal of Rare Diseases · 148

Ovarian function in girls and women with GALT‐deficiency galactosemia

2010 · Judith L. Fridovich‐Keil, Cynthia S. Gubbels, et al. · Journal of Inherited Metabolic Disease · 142

Hereditary galactosemia

2018 · Didem Demirbas, Ana I. Coelho, et al. · Metabolism · 140

Sweet and sour: an update on classic galactosemia

2017 · Ana I. Coelho, M. Estela Rubio‐Gozalbo, et al. · Journal of Inherited Metabolic Disease · 132

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

2015 · Saskia B. Wortmann, Szymon Ziętkiewicz, et al. · The American Journal of Human Genetics · 131

An update on serine deficiency disorders

2013 · S. N. van der Crabben, N. M. Verhoeven‐Duif, et al. · Journal of Inherited Metabolic Disease · 126

Carnitine?acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects

2004 · M RUBIOGOZALBO · Molecular Aspects of Medicine · 125

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

2014 · Peter M. van Hasselt, Sacha Ferdinandusse, et al. · New England Journal of Medicine · 120

Gonadal function in male and female patients with classic galactosemia

2009 · M.E. Rubio-Gozalbo, C.S. Gubbels, et al. · Human Reproduction Update · 120

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

2000 · Petr E. Jira, Ron A. Wevers, et al. · Journal of Lipid Research · 113

Assessing Microstructural Substrates of White Matter Abnormalities: A Comparative Study Using DTI and NODDI

2016 · Inge Timmers, Alard Roebroeck, et al. · PLoS ONE · 107

Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study

2016 · Rianne Jahja, Francjan J. van Spronsen, et al. · Journal of Inherited Metabolic Disease · 88

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

2014 · Inge Timmers, Hui Zhang, et al. · Journal of Inherited Metabolic Disease · 77

Parenting a child with phenylketonuria or galactosemia: implications for health‐related quality of life

2011 · Amber E. ten Hoedt, Heleen Maurice‐Stam, et al. · Journal of Inherited Metabolic Disease · 77

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

2017 · Rianne Jahja, Stephan C. J. Huijbregts, et al. · Neuropsychology · 72

Fertility and Impact of Pregnancies on the Mother and Child in Classic Galactosemia

2008 · Cynthia S. Gubbels, Jolande A. Land, et al. · Obstetrical & Gynecological Survey · 69

Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis

2007 · Rob M J Moonen, Aimee D C Paulussen, et al. · Pediatric Research · 68

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

2000 · S. Gr�newald, T. Imbach, et al. · Annals of Neurology · 68

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

2017 · Rianne Jahja, Francjan J. van Spronsen, et al. · Behavior Genetics · 65

Works count: 255

Citation count: 6,132

H-index: 45

I10-index: 121