A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life von Bascou, Nicholas, DeRenzo, Anthony, Poe, Michele D, Escolar, Maria L

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Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses von Shapiro, Elsa G., Escolar, Maria L., Delaney, Kathleen A., Mitchell, John J.

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Natural progression of neurological disease in mucopolysaccharidosis type II von Holt, Joshua B, Poe, Michele D, Escolar, Maria L

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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots von Hong, Xinying, Daiker, Jessica, Sadilek, Martin, Ruiz-Schultz, Nicole, Kumar, Arun Babu, Norcross, Stevie, Dansithong, Warunee, Suhr, Teryn, Escolar, Maria L., Ronald Scott, C., Rohrwasser, Andreas, Gelb, Michael H.

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Treatment of brain disease in the mucopolysaccharidoses von Scarpa, Maurizio, Orchard, Paul J., Schulz, Angela, Dickson, Patricia I., Haskins, Mark E., Escolar, Maria L., Giugliani, Roberto

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Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction von Weinstock, Nadav I., Shin, Daesung, Dhimal, Narayan, Hong, Xinying, Irons, Eric E., Silvestri, Nicholas J., Reed, Chelsey B., Nguyen, Duc, Sampson, Oliver, Cheng, Yung-Chih, Lau, Joseph T.Y., Bongarzone, Ernesto R., Kofler, Julia, Escolar, Maria L., Gelb, Michael H., Wrabetz, Lawrence, Feltri, M. Laura

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Clinical management of Krabbe disease von Escolar, Maria L., West, Tara, Dallavecchia, Alessandra, Poe, Michele D., LaPoint, Kathleen

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Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months von Beltran-Quintero, Maria L, Bascou, Nicholas A, Poe, Michele D, Wenger, David A, Saavedra-Matiz, Carlos A, Nichols, Matthew J, Escolar, Maria L

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Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation von Kofler, Julia, Beltran-Quintero, Maria L., Rugari, Anne, Zuccoli, Giulio, Klotz, Sarah, Escolar, Maria L.

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Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graf... von Prasad, Vinod K., Mendizabal, Adam, Parikh, Suhag H., Szabolcs, Paul, Driscoll, Timothy A., Page, Kristin, Lakshminarayanan, Sonali, Allison, June, Wood, Susan, Semmel, Deborah, Escolar, Maria L., Martin, Paul L., Carter, Shelly, Kurtzberg, Joanne

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β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice von Coltrini, Daniela, Chandran, Adwaid Manu Krishna, Belleri, Mirella, Poliani, Pietro L., Cominelli, Manuela, Pagani, Francesca, Capra, Miriam, Calza, Stefano, Prioni, Simona, Mauri, Laura, Prinetti, Alessandro, Kofler, Julia K., Escolar, Maria L., Presta, Marco

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Newborn screening for Krabbe disease in New York State: the first eight years’ experience von Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, Michele

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Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients von Bhalla, Akhil, Ravi, Ritesh, Fang, Meng, Arguello, Annie, Davis, Sonnet S., Chiu, Chi-Lu, Blumenfeld, Jessica R., Nguyen, Hoang N., Earr, Timothy K., Wang, Junhua, Astarita, Giuseppe, Zhu, Yuda, Fiore, Damian, Scearce-Levie, Kimberly, Diaz, Dolores, Cahan, Heather, Troyer, Matthew D., Harris, Jeffrey M., Escolar, Maria L.

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Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration von Marshall, Randall D, Collins, Abigail, Escolar, Maria L, Jinnah, H A, Klopstock, Thomas, Kruer, Michael C, Videnovic, Aleksandar, Robichaux-Viehoever, Amy, Burns, Colleen, Swett, Laura L, Revicki, Dennis A, Bender, Randall H, Lenderking, William R

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Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation von Corti, Manuela, Byrne, Barry J., Gessler, Dominic J., Thompson, Grace, Norman, Samantha, Lammers, Jenna, Coleman, Kirsten E., Liberati, Cristina, Elder, Melissa E., Escolar, Maria L., Tuna, Ibrahim S., Mesaros, Clementina, Kleiner, Gary I., Barbouth, Deborah S., Gray-Edwards, Heather L., Clement, Nathalie, Cleaver, Brian D., Gao, Guangping

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A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II von Escolar, Maria L

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Evolving therapies in neuronopathic LSDs: opportunities and challenges von Rajan, Deepa S, Escolar, Maria L

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Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II von Holt, Joshua, BS, Poe, Michele D., PhD, Escolar, Maria L., MD

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Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome von Porter, Katherine Ackerman, O’Neill, Cara, Drake, Elise, Andrews, Sara M., Delaney, Kathleen, Parker, Samantha, Escolar, Maria L., Montgomery, Stacey, Moon, William, Worrall, Carolyn, Peay, Holly L.

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Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms von Shapiro, Elsa G., Jones, Simon A., Escolar, Maria L.

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