Erik Eklund
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- 2017
-
Mark
Epilepsy in tuberous sclerosis patients in Sweden – Healthcare utilization, treatment, morbidity, and mortality using national register data
(
- Contribution to journal › Article
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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
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Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
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Mark
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
(
- Contribution to journal › Article
- 2015
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Mark
Neurological Aspects of Human Glycosylation Disorders
(
- Contribution to journal › Scientific review
- 2014
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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
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Mark
Neonatal invasiv grupp B-streptokockinfektion. Förhastat av Socialstyrelsen att avfärda allmän screening.
(
- Contribution to journal › Article
- 2009
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Mark
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus
(
- Contribution to journal › Article
- 2007
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Mark
The importance of fibroblasts in remodelling of the human uterine cervix during pregnancy and parturition.
(
- Contribution to journal › Article
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Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
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Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
- 2006
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Mark
The congenital disorders of glycosylation: a multifaceted group of syndromes.
(
- Contribution to journal › Article
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Mark
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality
(
- Contribution to journal › Article