M. Estela Rubio‐Gozalbo

Author

Also Known As

E. Rubio-Gozalbo, E. Rubio‐Gozalbo, Estela M. Rubio Gozalbo, Estela M. Rubio‐Gozalbo, Estela R. Gozalbo, Estela Rubio Gozalbo, Estela Rubio-Gozalbo, Estela Rubio‐Gozalbo, M E Rubio-Gozalbo, M Estela Rubio-Gozalbo

173

Publications

5.3K

Citations

H-Index

171

Concepts

All Affiliations

Maastricht University Maastricht University Medical Centre Radboud University Nijmegen University Medical Center Groningen Radboud University Medical Center

About

M. Estela Rubio‐Gozalbo is an author at Maastricht University specializing in medicine, health sciences, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	26	34	1.7K
2	Health Sciences	10	10	383
3	Engineering	3	3	200
4	Language Studies	1	1	18
5	Management	1	1	16

M. Estela Rubio‐Gozalbo

Publications

3.8K

Citations

H-Index

Page 1

	Year	Citations
<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha, New England Journal of Medicine Bone DiseaseSclerostinBone HealthX-linked OsteoporosisFracture Diagnostics	2013	195
The adult galactosemic phenotype Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon, Journal of Inherited Metabolic Disease	2011	184
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, Journal of Inherited Metabolic Disease NeuropsychologyPsychopharmacologyNeuropsychiatrySustained AttentionPsychology	2010	156
The natural history of classic galactosemia: lessons from the GalNet registry M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch, Orphanet Journal of Rare Diseases	2019	141
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, The American Journal of Human Genetics Genetic DisorderGeneticsProgressive Brain AtrophyPathologyCongenital Neutropenia	2015	135
An update on serine deficiency disorders Saskia N. van der Crabben, N. M. Verhoeven‐Duif, Eva H. Brilstra, Journal of Inherited Metabolic Disease	2013	120
Monocarboxylate Transporter 1 Deficiency and Ketone Utilization Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe, New England Journal of Medicine GeneticsPathologyMolecular GeneticsDisease Gene IdentificationCellular Physiology	2014	118
Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome Petr Jira, Ron A. Wevers, Jan de Jong, Journal of Lipid Research	2000	114
Assessing Microstructural Substrates of White Matter Abnormalities: A Comparative Study Using DTI and NODDI Inge Timmers, Alard Roebroeck, Matteo Bastiani, PLoS ONE EngineeringDensity ImagingMicroscopyWhite MatterPathology	2016	101
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study Rianne Jahja, Francjan J. van Spronsen, Leo de Sonneville, Journal of Inherited Metabolic Disease	2016	85

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