Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

by Nicholas A. Bascou, Maria L. Beltran-Quintero, Maria L. Escolar
Published 2020-10-01

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

by Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar
Published 2018-08-01

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

by Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols, Maria L. Escolar
Published 2019-02-01

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

by Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
Published 2019-07-01

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

by Akhil Bhalla, Ritesh Ravi, Meng Fang, Annie Arguello, Sonnet S. Davis, Chi-Lu Chiu, Jessica R. Blumenfeld, Hoang N. Nguyen, Timothy K. Earr, Junhua Wang, Giuseppe Astarita, Yuda Zhu, Damian Fiore, Kimberly Scearce-Levie, Dolores Diaz, Heather Cahan, Matthew D. Troyer, Jeffrey M. Harris, Maria L. Escolar
Published 2020-07-01