James A. Cooper
Manchester, ENG M239LT, United Kingdom
Last Updated: 09/26/2026
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Found 12 publications
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Journal: Genes
Published: July 04, 2025
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.
Journal: American journal of medical genetics. Part A
Published: December 23, 2024
Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.
Journal: International journal of neonatal screening
Published: November 03, 2024
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
Journal: Journal of clinical medicine
Published: February 04, 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Journal: Molecular genetics and metabolism
Published: December 13, 2023
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
Journal: Orphanet journal of rare diseases
Published: April 18, 2023
RNA-Seq Dataset From Isolated Leukocytes Following Spontaneous Intracerebral Hemorrhage in Zebrafish Larvae.
Journal: Frontiers in cellular neuroscience
Published: January 29, 2021
Anion carriers as potential treatments for cystic fibrosis: transport in cystic fibrosis cells, and additivity to channel-targeting drugs.
Journal: Chemical science
Published: August 23, 2019
Nanopore Detection of Single-Molecule Binding within a Metallosupramolecular Cage.
Journal: Chemistry (Weinheim an der Bergstrasse, Germany)
Published: February 13, 2018
The Role of Terminal Functionality in the Membrane and Antibacterial Activity of Peptaibol-Mimetic Aib Foldamers.
Journal: Chemistry (Weinheim an der Bergstrasse, Germany)
Published: November 08, 2017
Discrimination of supramolecular chirality using a protein nanopore.
Journal: Chemical science
Published: May 01, 2017
Efficient, non-toxic anion transport by synthetic carriers in cells and epithelia.
Journal: Nature chemistry
Published: March 27, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026