Publications by authors named "Esmee Oussoren"

22Publications

A Generic Assay to Detect Aberrant Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Mol Ther Methods Clin Dev 2020 Dec 16;19:174-185. Epub 2020 Sep 16.

Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

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December 2020

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.

Mol Genet Metab 2020 Dec 6;131(4):370-379. Epub 2020 Nov 6.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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December 2020

Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.

Bone 2021 Feb 29;143:115729. Epub 2020 Oct 29.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address:

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February 2021

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.

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September 2020

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

Mol Ther Methods Clin Dev 2020 Sep 3;18:532-557. Epub 2020 Jul 3.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.

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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.

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February 2020

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.

Orphanet J Rare Dis 2019 11 14;14(1):254. Epub 2019 Nov 14.

MPS LH Derneği, Hakimiyeti Milliye cad, No: 58 Vedat Kadri Kancal iş merkezi 46/A, Űskűdar, Istanbul, Turkey.

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November 2019

Mucolipidosis type III, a series of adult patients.

J Inherit Metab Dis 2018 09 27;41(5):839-848. Epub 2018 Apr 27.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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September 2018

Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria.

Eur J Paediatr Neurol 2017 Sep 15;21(5):792-794. Epub 2017 Jun 15.

Department of Pediatrics, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands; Department of Neonatology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands. Electronic address:

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September 2017

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

Mol Genet Metab 2017 07 19;121(3):241-251. Epub 2017 May 19.

Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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July 2017

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

PLoS One 2015 25;10(9):e0138622. Epub 2015 Sep 25.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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May 2016

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

J Inherit Metab Dis 2015 Sep 10;38(5):873-9. Epub 2015 Apr 10.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY, 10029, USA.

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September 2015

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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March 2015

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Mol Genet Metab 2013 Aug 4;109(4):377-81. Epub 2013 Jun 4.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.

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August 2013