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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2013
Mortality and causes of death in children referred to a tertiary epilepsy centerSabine Grønborg, Peter Uldall
Trends in Molecular Medicine|June 30, 2009
Organelle interplay in peroxisomal disordersSven Thoms, Sabine Grønborg, Jutta Gärtner
JIMD Reports|February 23, 2013
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disordersSabine Grønborg, Ralph Krätzner, Hendrik Rosewich, et al.
American Journal of Medical Genetics. Part A|June 26, 2015
Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformationSabine Grønborg, Susanne Kjaergaard, Hanne Hove, et al.
Ugeskrift for Laeger|May 6, 2017
[Exome sequencing for syndrome diagnostics]Elsebet Østergaard, Lotte Risom, Jakob Ek, et al.
BMC Medical Genetics|August 18, 2011
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patientsSven Thoms, Sabine Grønborg, Jana Rabenau, et al.
Molecular Genetics and Metabolism Reports|July 21, 2021
Case report: 'AARS2 leukodystrophy'Tobias Melton Axelsen, Tzvetelina Lubenova Vammen, Mads Bak, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasmaSabine Grønborg, Ralph Krätzner, Juliane Spiegler, et al.
JIMD Reports|July 14, 2021
Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature reviewCecilie Videbæk, Jette Stokholm, Henrik Sengeløv, et al.
European Journal of Human Genetics : EJHG|June 21, 2018
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical courseSabine Grønborg, Lotte Risom, Jakob Ek, et al.
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