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International Journal of Molecular Sciences|July 26, 2020
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II PatientsAkhil Bhalla, Ritesh Ravi, Meng Fang, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York StateMelissa P Wasserstein, Mary Andriola, Georgianne Arnold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe diseaseAdam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated NeurodegenerationThomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, 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.
Molecular Genetics and Metabolism|July 4, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Samuel Groeschel, Chloe Grzyb, et al.
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