A fit and well man in his 50s has a profound physical deterioration over half a year. The surprising answer is a treatable metabolic diagnosis. Check it out 👇
@JIMD_editors
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New publication in JIMD Reports with a review of Alpha Mannosidosis presentations in the UAE.
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE
Ali Saad et al
What does a Social Media editor do?
If you know, please tell me... but something I've decided to do is work with authors to create Visual Abstracts for their articles. In 2024 we've shared 24 visual abstracts for accompany our publications.
A second new publication looks at the possible utility of mannose supplementation in Hereditary fructose intolerance given its secondary effect on glycosylation.
Closing out 2024, a new publication in the main journal explores the use of a fly model in the understanding of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency.
From everyone at the JIMD we’re sending Season’s Greetings and wishing you all the best for 2025.
A group of Dutch collaborators have come together to try to address the big knowledge gaps in Inherited Metabolic Disease asking what do we still need to know, how can we improve care and how can we make it FAIR?
New: highlighting the cell-autonomous effects of pathogenic variants in the ABCD1 protein on astrocytes and their microenvironment, shed light on potential mechanisms underlying ALD neuropathology, & underscore the role of astrocytes in neuronal health.
Interesting new #PKU publication exploring the use of AI to review descriptive language work. The authors find a difference between patients and controls and see a notable variation between those with high and low Phe levels.
The last podcast of 2024 sees the return of Dr Francois Feillet discussing the final results of the KAMPER study reporting long-term outcomes of Kuvan (BH4) in phenylketonuria.
https://open.spotify.com/episode/3d2y80FeohhFMkt8Gpa895?si=M79EqhPtTnysH6wSpbTU2Q
