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Erik Eklund

Lund University

29

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864

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Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

2018 Orphanet Journal of Rare Diseases
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P034 TMEM199-CDG: another glycosylation defect with mild hepatic dysfunction and no neurologic involvement

2018 Digestive and Liver Disease
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A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

2016 Clinical Biochemistry
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

2016 Human Mutation
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Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate.

2016 Orphanet Journal of Rare Diseases
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Neurological Aspects of Human Glycosylation Disorders

2015 Annual Review of Neuroscience
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Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects.

2014 Birth Defects Research Part A-clinical and Molecular Teratology
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Neurology of inherited glycosylation disorders

2012 Lancet Neurology
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A novel treatment approach for paediatric Gorham-Stout syndrome with chylothorax.

2011 Acta Paediatrica
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Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus

2009 The American Journal of Clinical Nutrition
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Citations (48)