471 results on '"Clayton, Peter T."'
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2. Disorders of Bile Acid Synthesis
3. Disorders of Isoprenoid/Cholesterol Synthesis
4. Disorders of Manganese Metabolism
5. Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry
6. Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates
7. Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C
8. Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C
9. Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C.
10. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
11. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
12. Disorders of Bile Acid Synthesis
13. Disorders of Isoprenoid/Cholesterol Synthesis
14. Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
15. Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans
16. Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
17. Peroxisomal D-hydroxyacyl-CoA Dehydrogenase Deficiency: Resolution of the Enzyme Defect and Its Molecular Basis in Bifunctional Protein Deficiency
18. New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases
19. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
20. Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation
21. ACOX2 deficiency : A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
22. Disorders of Bile Acid Synthesis and Biliary Transport
23. Inherited disorders of transition metal metabolism: an update
24. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
25. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
26. Disorders of Cholesterol Synthesis
27. Disorders of Bile Acid Synthesis
28. Disorders of Neurotransmission
29. Disorders of Bile Acid Synthesis
30. Disorders of Cholesterol Synthesis
31. Disorders of Neurotransmission
32. Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma
33. Disorders of Bile Acid Synthesis
34. Disorders in the transport of copper, iron, magnesium, manganese, selenium and zinc
35. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease
36. Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
37. Disorders of Manganese Metabolism
38. A preterm neonate with seizures unresponsive to conventional treatment
39. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
40. Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation
41. Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid
42. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
43. Screening of Newborn Infants for Cholestatic Hepatobiliary Disease
44. Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine: glyoxylate aminotransferase causing primary hyperoxaluria type I
45. Screening of Newborn Infants for Cholestatic Hepatobiliary Disease with Tandem Mass Spectrometry
46. Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy
47. A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease
48. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method
49. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
50. Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
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