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Van Hove JLK
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Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy
Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
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