Publications by authors named "Estela Rubio Gozalbo"

78Publications

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 09 7;15(1):238. Epub 2020 Sep 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
September 2020

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.

J Inherit Metab Dis 2020 Sep 5;43(5):994-1001. Epub 2020 Jun 5.

Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.

View Article and Find Full Text PDF
September 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 02 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
February 2020

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

J Inherit Metab Dis 2019 09 17;42(5):878-889. Epub 2019 Jul 17.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

View Article and Find Full Text PDF
September 2019

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis 2019 01;42(1):159-168

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital (UMCU), University Medical Center Utrecht, Internal Mail KE 04.306.0, PO Box 85090 3508 AB, Utrecht, Netherlands.

View Article and Find Full Text PDF
January 2019

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.

J Inherit Metab Dis 2018 09 18;41(5):791-797. Epub 2018 Apr 18.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center+, P. Debeylaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

View Article and Find Full Text PDF
September 2018

Hereditary galactosemia.

Metabolism 2018 06 31;83:188-196. Epub 2018 Jan 31.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

View Article and Find Full Text PDF
June 2018

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Ann Nutr Metab 2018 16;72(1):80-81. Epub 2018 Jan 16.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

View Article and Find Full Text PDF
August 2019

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.

PLoS One 2017 26;12(9):e0185342. Epub 2017 Sep 26.

Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
October 2017

Impaired fertility and motor function in a zebrafish model for classic galactosemia.

J Inherit Metab Dis 2018 01 14;41(1):117-127. Epub 2017 Sep 14.

Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, P.O. Box 616, box 16, 6200 MD, Maastricht, The Netherlands.

View Article and Find Full Text PDF
January 2018