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Journal of Inherited Metabolic Disease|April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.Pediatric Neurology|March 24, 2009
Newborn screening for Krabbe disease: the New York State modelPatricia K Duffner, Michele Caggana, Joseph J Orsini, et al.Cancer Immunology Research|June 28, 2023
AXL Inhibition Improves the Antitumor Activity of Chimeric Antigen Receptor T CellsR Leo Sakemura, Mehrdad Hefazi, Michelle J Cox, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|September 28, 2021
Current directions in tau research: Highlights from Tau 2020Claire Sexton, Heather Snyder, Dirk Beher, et al.Journal of Clinical Monitoring and Computing|February 20, 2019
Correction to: Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentaryStanley A Skinner, Elif Ilgaz Aydinlar, Lawrence F Borges, et al.The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.Pageof 16