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Orphanet Journal of Rare Diseases|June 18, 2026
Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventionsLaura Kirkpatrick, Erin Friel, Gysella Muniz, et al.Frontiers in Neurology|November 12, 2020
Pathogenic Variants in <i>GALC</i> Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of LiteratureNicholas A Bascou, Maria L Beltran-Quintero, Maria L EscolarPediatric Clinics of North America|May 30, 2015
Emerging treatments for pediatric leukodystrophiesGuy Helman, Keith Van Haren, Maria L Escolar, et al.Orphanet Journal of Rare Diseases|August 10, 2018
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of lifeNicholas Bascou, Anthony DeRenzo, Michele D Poe, et al.Pediatrics|August 23, 2006
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantationMaria L Escolar, Michele D Poe, Holly R Martin, et al.Genes and Immunity|October 5, 2022
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitisDevesh Malik, Dennis W Simon, Kavita Thakkar, et al.Molecular Genetics & Genomic Medicine|July 23, 2020
Survival of a male patient harboring CASK Arg27Ter mutation to adolescenceKonark Mukherjee, Paras A Patel, Deepa S Rajan, et al.Developmental Medicine and Child Neurology|October 19, 2006
Gross motor abilities in children with Hurler syndromeStacey C Dusing, Deborah Thorpe, Angela Rosenberg, et al.Journal of Neuroscience Research|September 18, 2016
Clinical management of Krabbe diseaseMaria L Escolar, Tara West, Alessandra Dallavecchia, et al.Molecular Genetics and Metabolism|November 13, 2017
Assessments of neurocognitive and behavioral function in the mucopolysaccharidosesElsa G Shapiro, Maria L Escolar, Kathleen A Delaney, et al.Pageof 9