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- 2022
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Mark
A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
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- Contribution to journal › Article
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Mark
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
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- Contribution to journal › Article
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Breastfed Infants With Spells, Tremor, or Irritability : Rule Out Vitamin B12 Deficiency
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- Contribution to journal › Article
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Mark
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
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- Contribution to journal › Article
- 2021
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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
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
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- Contribution to journal › Article
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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
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
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