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Proceedings 2024 All rights reserved

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SSIEM Annual Symposium 2024, 3-6 September 2024 : abstracts

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#OC-041: Dominant-negative effect of lactase-phlorizin hydrolase missense variants : hetero-complex assembly with the wild type enzyme impairs intracellular trafficking and digestive function

p. 58

Marten, Lara; Wanes, Dalanda; Stellbrink, Tammi; Naim, Hassan Y.; Santer, René
#PO-240: Rapid cellular uptake and high stability of recombinant Pegunigalsidase Alfa (PA) in fibroblasts from fabry patients

p. 207

Hoter, Abdullah; Das, Anibh M.; Naim, Hassan Y.
#PO-258: Pathogenesis of the adult-onset Niemann-Pick Type C disease : relevance of cellular cholesterol accumulation to trafficking of NPC1 protein

p. 217

Mahmoud, Sanaa; Naim, Hassan Y.

Category

Conference:: SSIEM Annual Symposium 2024, Porto (Portugal) 03.-06.09.2024
Published in:: Journal of inherited metabolic disease
Vol. 47, No. S1 (2024), p. 1-477
Volume:: 47
No.:: S1
Date Issued:: 2024
DOI:: 10.1002/jimd.12788
Language:: English
Type of Resource:: Text
Publisher:: Wiley
DDC subject of DNB:: 630 Veterinary medicine & agriculture
Link to Raw Object:: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12788

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