Professor Tarekegn Hiwot, PhD, University of Birmingham, United Kingdom
Orphanet Journal of Rare Diseases is calling for submissions to our Collection on Current Updates in Adult Inherited Metabolic Disorders. This Collection aims to provide a comprehensive update on the current state of adult inherited metabolic disorders, fostering a deeper understanding and encouraging further research in this evolving field.
This Collection delves into the latest advancements and challenges in the field of adult inherited metabolic disorders (IMD). The Collection will bring together articles that explore various aspects of IMD, providing valuable insights for clinicians, researchers, and healthcare professionals.
Topics included (but not limited to):
1. Neurological disorders of adult onset.
2. Whole exome and genome sequencing – opportunities and challenges.
3. Managing pregnancy in patients with IMD.
4. Hyperammonaemia management in adult urea cycle disorders.
5. Phenylketonuria – balance between metabolic and mental well-being.
6. Long term outcomes of enzyme replacement therapies- success and pitfalls.
7. Organ transplant – cost effectiveness versus expensive drugs?
8. Tyrosinemia type 1 long-term outcome - can we do better to improve neurocognitive outcome?
This Collection aims to provide a comprehensive update on the current state of adult inherited metabolic disorders, fostering a deeper understanding and encouraging further research in this evolving field.
There are currently no articles in this collection.
This Collection welcomes submissions of original research and review articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal.
Articles for this Collection should be submitted via Editorial Manager. Please select the appropriate Collection title “Current Updates in Adult Inherited Metabolic Disorders" from the dropdown menu.
Articles will undergo the journal’s standard peer-review process and are subject to all the journal’s standard policies. Articles will be added to the Collection as they are published.
The Editors have no competing interests with the submissions which they handle through the peer-review process. The peer-review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.