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