Journal article icon

Journal article

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Abstract:

Background

Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.


Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with conformational abnormalities. This pathogenic mechanism is highly amenable to a therapeutic strategy based on chemical/pharmacological chaperones. Arginin...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

Actions


Access Document


Files:
Publisher copy:
10.1186/s13023-018-0954-8

Authors


Haskovic, M More by this author
Van Der Ploeg, L More by this author
Trommelen, J More by this author
Nyakayiru, J More by this author
Expand authors...
Stowisselkracht More from this funder
Publisher:
BioMed Central Publisher's website
Journal:
Orphanet Journal of Rare Diseases Journal website
Volume:
13
Issue:
1
Pages:
212
Publication date:
2018-11-26
Acceptance date:
2018-11-14
DOI:
EISSN:
1750-1172
ISSN:
1750-1172
Pubs id:
pubs:949015
URN:
uri:4f44f3f2-92d0-4835-bb8f-e083515b6115
UUID:
uuid:4f44f3f2-92d0-4835-bb8f-e083515b6115
Local pid:
pubs:949015

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP