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Doctor Analyzing X-Rays



Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.
Mynarek, M., Tolar, J., Albert, M. H., Escolar, M. L., Boelens, J. J., Cowan, M. J., et al. (2012) Bone Marrow Transplant. 47(3):352-359.

Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome.
Staba, S. L., Escolar, M. L., Poe, M., Kim, Y., Martin, P. L., Szabolcs, P., et al. (2004). N Engl J Med, 350(19), 1960-1969.

Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II.
Fan, Z., Styner, M., Muenzer, J., Poe, M., & Escolar, M. (2010). AJNR Am J Neuroradiol, 31(7), 1319-1323.

Correlation of neurodevelopmental features and MRI findings in infantile Krabbe’s disease.
Provenzale, J. M., Peddi, S., Kurtzberg, J., Poe, M. D., Mukundan, S., & Escolar, M. (2009). AJR Am J Roentgenol, 192(1), 59-65.

Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease.
Escolar, M. L., Poe, M. D., Smith, J. K., Gilmore, J. H., Kurtzberg, J., Lin, W., et al. (2009). AJNR Am J Neuroradiol, 30(5), 1017-1021.

DTI registration in atlas based fiber analysis of infantile Krabbe disease.
Wang, Y., Gupta, A., Liu, Z., Zhang, H., Escolar, M. L., Gilmore, J. H., et al. (2011). Neuroimage, 55(4), 1577-1586.

Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II.
Holt, J., Poe, M. D., & Escolar, M. L. (2011). J Pediatr, 159(2), 320-326.e2.

Escolar ML, Natural history of Sanfilippo syndrome type A.
Buhrman D, Thakkar K, Poe MD. Journal of Inherited Metabolic Disease. Published online November 2013

Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report.
Dusing, S. C., Rosenberg, A., Hiemenz, J. R., Piner, S., & Escolar, M. (2005). Pediatr Phys Ther, 17(4), 264-267.

Gross motor abilities in children with Hurler syndrome.
Dusing, S. C., Thorpe, D., Rosenberg, A., Mercer, V., & Escolar, M. L. (2006). Dev Med Child Neurol, 48(11), 927-930.

Gross motor development of children with hurler syndrome after umbilical cord blood transplantation.
Dusing, S. C., Thorpe, D. E., Poe, M. D., Rosenberg, A. E., Mercer, V. S., & Escolar, M. L. (2007 Phys Ther, 87(11), 1433-1440.

Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements–initial experience.
McGraw, P., Liang, L., Escolar, M., Mukundan, S., Kurtzberg, J., & Provenzale, J. M. (2005). Radiology, 236(1), 221-230.

Lysosomal Storage Diseases: Heterogeneous Group of Disorders
David A. Wenger, Paola Luzi, Mohammad A. Rafi

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
Mahmood, A., Berry, J., Wenger, D. A., Escolar, M., Sobeih, M., Raymond, G., et al. (2010). J Child Neurol. 25(5), 572-580.

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective.
Martin, H. R., Poe, M. D., Reinhartsen, D., Pretzel, R. E., Roush, J., Rosenberg, A., et al. (2008). Acta Paediatr Suppl, 97(457), 69-75.

Multidisciplinary management of Hunter syndrome.
Muenzer, J., Beck, M., Eng, C. M., Escolar, M. L., Giugliani, R., Guffon, N. H., et al. (2009). Pediatrics, 124(6), e1228-1239.

Natural progression of neurological disease in mucopolysaccharidosis type II.
Holt, J. B., Poe, M. D., & Escolar, M. L. (2011). Pediatrics, 127(5), e1258-1265.

Neonatal umbilical cord blood transplantation favorably alters the neurodevelopmental outcome and survival of babies with infantile Krabbe disease.
Wood, S. J., Allison, J., Escolar, M. L., Provenzale, J. M., & Kurtzberg, J. (2006). Biol Blood Marrow Transplant, 12(2), 153-154.

Neurodevelopmental outcome of children with infantile Krabbe disease treated with umbilical cord blood transplantation: 10 years of follow-up.
Escolar, M. L., Yelin, K., & Poe, M. D. (2006). Lysosomal Storage Diseases, 6(3), 71-79.

Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy.
Poe MD, Martin HR, Provenzale JM, Kurtzberg J, Mendizabal A, Escolar ML.Biol Blood Marrow Transplant 2013 Apr;19(4):616-24.

Neurophysiologic assessment of mucopolysaccharidosis III.
Husain, A. M., Escolar, M. L., & Kurtzberg, J. (2006). Clin Neurophysiol, 117(9), 2059-2063.

Newborn screening for Krabbe disease: the New York State model.
Duffner, P. K., Caggana, M., Orsini, J. J., Wenger, D. A., Patterson, M. C., Crosley, C. J., et al. (2009). Pediatr Neurol, 40(4), 245-252; discussion 253-255.

Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy.
Beam, D., Poe, M. D., Provenzale, J. M., Szabolcs, P., Martin, P. L., Prasad, V., et al. (2007). Biol Blood Marrow Transplant, 13(6), 665-674.

Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.
Berardi A.S., Pannuzzo G., Graziano A., Costantino-Ceccarini E., Piomboni P., Luddi A.

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.
Myers, L. A., Hershfield, M. S., Neale, W. T., Escolar, M., Kurtzberg, J. (2004). J Pediatr, 145(5), 710-712.

Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease.
Provenzale, J. M., Escolar, M., & Kurtzberg, J. (2005). Ann N Y Acad Sci, 1064, 220-229.

Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome.
Boelens, J. J., Rocha, V., Aldenhoven, M., Wynn, R., O’Meara, A., Michel, G., et al. (2009). Biol Blood Marrow Transplant, 15(5), 618-625.

Temporal and Spatial Gait Characteristics of Children With Hurler Syndrome After Umbilical Cord Blood Transplantation.
Dusing, S. C., Thorpe, D. E., Mercer, V. S., Rosenberg, A. E., Poe, M. D., & Escolar, M. L. (2007). Phys Ther. 87(8), 978-985.

Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of Globoid Cell Leukodystrophy.
Lattanzi A, Salvagno C, Maderna C, Benedicenti F, Morena F, Kulik W, Naldini L, Montini E, Martino S, Gritti A

Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease.
Escolar, M. L., Poe, M. D., Provenzale, J. M., Richards, K. C., Allison, J., Wood, S., et al. (2005). Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N Engl J Med, 352(20), 2069-2081.

Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes.
Prasad, V. K., Mendizabal, A., Parikh, S. H., Szabolcs, P., Driscoll, T. A., Page, K., et al. (2008). Blood, 112(7), 2979-2989.

When Hearing Loss Occurs with Multiple Disabilities.
Roush, J. P. D., Holcomb, M. B. A., Roush, P. M. A., & Escolar, M. L. M. D. (2004). Seminars in Hearing (04), 333-345.

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