Erik Eklund
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- 2018
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Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2017
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Mark
Epilepsy in tuberous sclerosis patients in Sweden – Healthcare utilization, treatment, morbidity, and mortality using national register data
- Contribution to journal › Article
-
Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
- Contribution to journal › Article
- 2016
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
(2016) In Human Mutation
- Contribution to journal › Article
-
Mark
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
- Contribution to journal › Article
- 2015
-
Mark
Neurological Aspects of Human Glycosylation Disorders
- Contribution to journal › Scientific review
- 2014
-
Mark
Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects.
- Contribution to journal › Article
- 2012
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Mark
Neurology of inherited glycosylation disorders
- Contribution to journal › Scientific review
- 2011
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Mark
A novel treatment approach for paediatric Gorham-Stout syndrome with chylothorax
- Contribution to journal › Article
- 2010
-
Mark
Neonatal invasiv grupp B-streptokockinfektion. Förhastat av Socialstyrelsen att avfärda allmän screening.
- Contribution to journal › Article
