13 results on '"Christodoulou, John"'
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2. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
3. RETT SYNDROME IN AUSTRALIA: A REVIEW OF THE EPIDEMIOLOGY
4. Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes
5. Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature
6. PREDICTORS OF SEIZURE ONSET IN RETT SYNDROME
7. Mitochondrial electron transport chain defect presenting as hypoglycemia
8. Mitochondrial myopathy with tRNA sup Leu(UUR) mutation and complex I deficiency responsive to riboflavin
9. Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group
10. Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features
11. Mitochondrial myopathy with tRNA Leu(UUR) mutation and complex I deficiency responsive to riboflavin
12. Carnitine palmitoyltransferase II deficiency: A new cause of recurrent pancreatitis
13. Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts
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