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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe diseaseThomas J Langan, Joseph J Orsini, Kabir Jalal, et al.Clinical Chemistry|June 9, 2017
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe DiseaseHsuan-Chieh Liao, Zdenek Spacil, Farideh Ghomashchi, et al.Orphanet Journal of Rare Diseases|February 20, 2019
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 monthsMaria L Beltran-Quintero, Nicholas A Bascou, Michele D Poe, et al.Paediatric Anaesthesia|July 31, 2019
General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophyNicholas A Bascou, Maria C Marcos, Maria L Beltran Quintero, et al.Neuroimage|January 25, 2011
DTI registration in atlas based fiber analysis of infantile Krabbe diseaseYi Wang, Aditya Gupta, Zhexing Liu, et al.Annals of Neurology|February 7, 2021
Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic ReviewSarah E Smith, Mary Gannotti, Edward A Hurvitz, et al.Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|May 29, 2007
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophyDonald Beam, Michele D Poe, James M Provenzale, et al.Journal of Patient-Reported Outcomes|April 25, 2022
Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndromeKatherine Ackerman Porter, Cara O'Neill, Elise Drake, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2020
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spotsXinying Hong, Jessica Daiker, Martin Sadilek, et al.Life Science Alliance|April 8, 2022
Functional and structural deficiencies of Gemin5 variants associated with neurological disordersRosario Francisco-Velilla, Azman Embarc-Buh, Francisco Del Caño-Ochoa, et al.Pageof 9