RESEARCH
PUBLICATIONS
NEXTBIO COMMUNITY
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A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Authors: Stanley H Korman, James J Pitt, Avihu Boneh, Imad Dweikat, Mokhtar Zater, Vardiella Meiner, Alisa Gutman, Michèle Brivet
Molecular genetics and metabolism 2006 Dec -
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Authors: G Pierre, A Macdonald, G Gray, C Hendriksz, M A Preece, A Chakrapani
Journal of inherited metabolic disease 2007 Oct
Thought leaders and organizations working on research involving carnitine-acylcarnitine translocase (cact) deficiency.
- University of Bari
- University Hospital Maastricht
- Baylor University Medical Center
- Hadassah - Hebrew University Medical Center
- Birmingham Children's Hospital
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