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Annals of Clinical and Translational Neurology|November 5, 2024
Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trialsMelissa R Greco, Mabel A Lopez, Maria L Beltran-Quintero, et al.
Pediatric Blood & Cancer|November 23, 2016
Forced deflation pulmonary function test: a novel method to evaluate lung function in infants and young childrenRakesh K Goyal, Azada Ibrahimova, Maria L Escolar, et al.
Neuropediatrics|January 25, 2014
Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literaturePatricia L Musolino, Troy C Lund, Jessica Pan, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 28, 2008
Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspectiveHolly R Martin, Michele D Poe, Debra Reinhartsen, et al.
Neurology and Therapy|December 2, 2020
Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative AssessmentKatherine Ackerman Porter, Cara O'Neill, Elise Drake, et al.
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.
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