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- 2024
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Mark
Folate receptor α deficiency : Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach
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- Contribution to journal › Article
- 2022
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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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Mark
Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
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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
- 2019
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Mark
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
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- Contribution to journal › Article
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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
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers : from bedside to home site monitoring
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- Contribution to journal › Article
- 2017
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Mark
Amino acid synthesis deficiencies
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- Contribution to journal › Scientific review
- 2016
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Mark
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
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- Contribution to journal › Article