19 results on '"Heales S"'
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2. Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
3. Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders
4. Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?
5. Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states
6. Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment
7. Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients
8. Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion
9. Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies
10. Nitric oxide and antioxidant status in glucose and oxygen deprived neonatal and adult rat brain synaptosomes
11. Tetrahydrobiopterin deficiency and brain nitric oxide synthase in thehph1 mouse
12. Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency
13. Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement ofcis-4-decenoic acid in plasma
14. The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies
15. Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration
16. Mitochondrial damage: An important feature in a number of inborn errors of metabolism?
17. The investigation of inborn errors in vivo using stable isotopes
18. Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency
19. Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia
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