189 results on '"Mills, Philippa B."'
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2. mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
3. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
4. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
5. Evaluation of Transgenic Tomato Plants Expressing an Additional Phytoene Synthase in a Fruit-Specific Manner
6. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
7. Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
8. mRNA therapy restores ureagenesis and corrects glutathione metabolism in argininosuccinic aciduria
9. Expanding the phenotype in argininosuccinic aciduria: need for new therapies
10. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
11. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
12. Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment
13. Disorders of Manganese Metabolism
14. Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid
15. RARS2 mutations in a sibship with infantile spasms
16. Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
17. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
18. Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine: glyoxylate aminotransferase causing primary hyperoxaluria type I
19. Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment
20. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method
21. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
22. Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
23. Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
24. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
25. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder
26. Manganese and the Brain
27. Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders
28. Phenotypic Variability in a Dystonia Family With Mutations in the Manganese Transporter Gene
29. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: A new treatable disorder
30. Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism
31. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
32. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
33. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
34. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
35. The underglycosylation of plasma α1-antitrypsin in congenital disorders of glycosylation type I is not random
36. Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity
37. Disorders affecting vitamin B6 metabolism
38. Mutations in antiquitin in individuals with pyridoxine-dependent seizures
39. Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders.
40. Host-microbe co-metabolism dictates cancer drug efficacy in C. elegans
41. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
42. Micronutrients
43. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
44. An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
45. Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy
46. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
47. Disorders affecting vitamin B6 metabolism.
48. Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
49. Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
50. TRNT1 deficiency: clinical, biochemical and molecular genetic features
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