901 results on '"Duran, Marinus"'
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2. Emergency Diagnostic Procedures and Emergency Treatment
3. Organic Acids
4. Biochemical Phenotypes of Questionable Clinical Significance
5. Mitochondrial Fatty Acid Oxidation Disorders
6. A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
7. Branched Chain Amino Acid Oxidation Disorders
8. Identification of human D lactate dehydrogenase deficiency
9. Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling
10. Simple Tests in Urine and Blood
11. Miscellaneous Analyses
12. Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
13. Pipecolic Acid
14. Amino Acids
15. Simple Metabolic Screening Tests
16. Diagnosis of Inherited Defects of Cholesterol Biosynthesis
17. Very-Long-Chain Fatty Acids and Phytanic Acid
18. Plasmalogens and Polyunsaturated Fatty Acids
19. Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism
20. Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: A meta-analysis
21. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
22. Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite
23. Interpretation of Acylcarnitine Analysis Results
24. Interpretation of Organic Acid Analysis Results
25. New insights on the mechanisms of valproate-induced hyperammonemia: Inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA
26. Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation
27. Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases
28. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
29. Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond
30. Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
31. Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis
32. Inborn Errors of Molybdenum Metabolism: Combined Deficiencies of Sulfite Oxidase and Xanthine Dehydrogenase in a Patient Lacking the Molybdenum Cofactor
33. S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation
34. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
35. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
36. Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach
37. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
38. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
39. Diagnosis and management of glutaric aciduria type I – revised recommendations
40. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
41. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
42. Molybdenum Cofactor Deficiency
43. The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease
44. Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand
45. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
46. Studies on the extra-mitochondrial CoA-ester formation of valproic and Δ 4-valproic acids
47. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
48. Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation
49. Mitochondrial Fatty Acid Oxidation Disorders
50. Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
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