567 results on '"Wilcken, Bridget"'
Search Results
2. Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
3. Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example
4. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
5. Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era
6. Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study
7. Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency
8. The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness
9. Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
10. Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias
11. Newborn Screening for Inborn Errors of Metabolism
12. Disorders of Sulfur Amino Acid Metabolism
13. Newborn Screening for Inborn Errors of Metabolism
14. Newborn Screening: Gaps in the Evidence
15. The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome
16. Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
17. Expanded newborn screening in New South Wales: missed cases
18. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
19. The Long-Term Outcome in Homocystinuria
20. Healthcare Use and Costs of Medium-chain Acyl-Coa Dehydrogenase Deficiency in Australia: Screening Versus No Screening
21. Using record linkage to investigate perinatal factors and neonatal thyroid-stimulating hormone
22. Fifty years of newborn screening
23. European best practice guidelines for cystic fibrosis neonatal screening
24. Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
25. Additional file 1 of Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example
26. Diagnosis and management of glutaric aciduria type I – revised recommendations
27. Newborn screening: how are we travelling, and where should we be going?
28. Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test
29. Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for
30. Expanded newborn screening: reducing harm, assessing benefit
31. Fatty acid oxidation disorders: outcome and long-term prognosis
32. Current issues regarding treatment of mitochondrial fatty acid oxidation disorders
33. The ward round
34. Economic evaluation of tandem mass spectrometry newborn screening in Australia
35. Oral Tyrosine Supplementation Facilitates Conditions for the Preferential Transport of Tyrosine Across the Blood-Brain Barrier in Anorexia Nervosa: a Case Study Series
36. Newborn screening for cystic fibrosis: Techniques and strategies
37. ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
38. Mini-Symposium: Newborn screening for inborn errors of metabolism—Clinical effectiveness
39. Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function
40. Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening
41. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
42. The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness
43. 3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
44. Ethical issues in newborn screening and the impact of new technologies
45. Maternal attitudes to newborn screening for fragile X syndrome
46. Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias
47. Screening newborns for inborn errors of metabolism by tandem mass spectrometry
48. Screening for disease in the newborn: the evidence base for blood-spot screening
49. Leukoencephalopathies Associated with Disorders of Cobalamin and Folate Metabolism
50. Clinical practice and the development of evidence
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