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Molecular Genetics and Metabolism
|
May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
The Journal of Clinical Investigation
|
June 30, 2020
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, et al.
Acta Neuropathologica Communications
|
July 23, 2025
Gene therapy ameliorates neuromuscular pathology in CLN3 disease
Ewa A Ziółkowska, Albina Jablonka-Shariff, Letitia L Williams, et al.
Molecular Genetics and Metabolism
|
January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
Nature Cell Biology
|
November 7, 2018
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis
Alberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, et al.
Biorxiv : the Preprint Server for Biology
|
February 20, 2025
Identifying and treating CLN3 disease outside the central nervous system
Ewa A Ziółkowska, Albina Jablonka-Shariff, Letitia L Williams, et al.
Science Translational Medicine
|
January 15, 2025
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models
Ewa A Ziółkowska, Matthew J Jansen, Letitia L Williams, et al.
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Search research articles
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Showing results (21-30 of 27) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 27 results.
Molecular Genetics and Metabolism
|
May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
The Journal of Clinical Investigation
|
June 30, 2020
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, et al.
Acta Neuropathologica Communications
|
July 23, 2025
Gene therapy ameliorates neuromuscular pathology in CLN3 disease
Ewa A Ziółkowska, Albina Jablonka-Shariff, Letitia L Williams, et al.
Molecular Genetics and Metabolism
|
January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
Nature Cell Biology
|
November 7, 2018
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis
Alberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, et al.
Biorxiv : the Preprint Server for Biology
|
February 20, 2025
Identifying and treating CLN3 disease outside the central nervous system
Ewa A Ziółkowska, Albina Jablonka-Shariff, Letitia L Williams, et al.
Science Translational Medicine
|
January 15, 2025
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models
Ewa A Ziółkowska, Matthew J Jansen, Letitia L Williams, et al.
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of 3