129 results on '"Footitt, Emma"'
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2. Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
3. Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.
4. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
5. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
6. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
7. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
8. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
9. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
10. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
11. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
12. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders
13. Mucolipidosis type II growth trajectories and requirement for enteral tube feeding: A single centre review
14. Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
15. Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid
16. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
17. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
18. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method
19. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
20. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
21. Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
22. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
23. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
24. Movement Disorders in Adult Patients With Classical Galactosemia
25. Inborn errors of metabolism causing epilepsy
26. Carotenaemia
27. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
28. Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.
29. Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B6 deficiency states
30. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
31. Metabolic Disorders and the Skin
32. Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment
33. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
34. 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
35. Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy
36. Enzyme replacement therapy infusion related reactions: review of acute assessment, investigation and management in a large single-centre cohort of children with lysosomal diseases, and development of a novel “Traffic-Light” assessment and management protocol
37. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
38. TRNT1 deficiency: clinical, biochemical and molecular genetic features
39. Proteomic analysis of urine reveals potential markers for CLN2 Batten disease
40. Swallow prognosis and follow up protocol in infantile Pompe disease
41. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
42. Early predictors of neurological involvement scoring system in mucopolysaccharidosis type 2: Does it help?
43. Urine biomarker discovery using label free proteomics reveals novel markers for the monitoring of treatment for mucopolysaccharide disorders
44. The development of a rapid, multiplexed UPLC–MS/MS assay for quantitation of lyso-Gb3 and Gb3 in dried blood spots
45. Inborn errors of metabolism causing epilepsy
46. Measurement of plasma B 6 vitamer profiles in children with inborn errors of vitamin B 6 metabolism using an LC‐MS/MS method
47. Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B6 deficiency states.
48. TRNT1 deficiency: clinical, biochemical and molecular genetic features
49. Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
50. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
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