Erik Eklund
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- 2021
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Mark
Age- and sex-specific prevalence of serious bacterial infections in febrile infants ≤60 days, in Sweden
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- Contribution to journal › Article
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Mark
Abnormal glucose tolerance and lung function in children with cystic fibrosis. Comparing oral glucose tolerance test and continuous glucose monitoring
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- Contribution to journal › Article
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Mark
The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants
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- Contribution to journal › Article
- 2020
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Mark
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
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- Contribution to journal › Article
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Mark
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
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- Contribution to journal › Article
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Mark
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice
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- Contribution to journal › Article
- 2019
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Mark
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
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- Contribution to journal › Article
- 2018
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Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
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- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
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- Contribution to journal › Article
- 2017
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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
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- Contribution to journal › Article