Publications by authors named "Bregje Jaeger"

8Publications

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.

Pediatr Neurol 2020 01 22;102:62-66. Epub 2019 Jun 22.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Gastro-Enterology & Metabolism Research Institute, Amsterdam University Medical Centres, Amsterdam, The Netherlands; Department of Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.009DOI Listing
January 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Neonate with Mycoplasma hominis meningoencephalitis given moxifloxacin.

Lancet Infect Dis 2016 Nov 16;16(11):e261-e266. Epub 2016 Sep 16.

Department of Paediatric Haematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S1473-3099(16)30162-1DOI Listing
November 2016

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

JIMD Rep 2017 29;33:87-92. Epub 2016 Sep 29.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413457PMC
September 2016

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

J Inherit Metab Dis 2016 07 14;39(4):559-64. Epub 2016 Mar 14.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9924-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920840PMC
July 2016

Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies.

Neuromuscul Disord 2015 Jun 1;25(6):457-60. Epub 2015 Apr 1.

Department of Neurology, Academic Medical Centre, Amsterdam.

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http://dx.doi.org/10.1016/j.nmd.2015.03.012DOI Listing
June 2015

The verbal fluency index: Dutch normative data for cognitive testing in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Sep 27;15(5-6):388-91. Epub 2014 May 27.

Department of Neurology, Academic Medical Centre, University of Amsterdam , Amsterdam , the Netherlands.

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http://dx.doi.org/10.3109/21678421.2014.906620DOI Listing
September 2014