Selection Of Relevant Peer Reviewed Journal Publications

Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Eugen Mengel K, Gokce S, Guffon N, Giugliani R, F M de Souza C, Shapiro E, Whitley C . Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison Genet Med. 2018;10.1038/gim.2018.29. doi:10.1038/gim.2018.29

Shapiro E, Chester B. Whitley, Eisengart J.  Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome, Orphanet Journal of Rare Diseases, doi.org/10.1186/s13023-018-0817-3 

Ghosh A, Shapiro E, Rust S, Delaney K, Parker S, Shaywitz A, Morte A, Bubb G, Cleary M, Bo T, Lavery C, Bigger BW, Jones SA. Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III, Orphanet Journal of Rare Diseases, doi.org/10.1186/s13023-017-0675-4

Wahab MA, Potegal M, Shapiro E, Nestrasil I. A Previously Unrecognized Behavioural Phenotype in Gaucher Disease Type III, Neurology Genetics 2017;3:e158; http://ng.neurology.org/content/3/3/e158.full.pdf

van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar M, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg F, Yu Z-f, Janzen D, Shapiro E. (2017). Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. Molecular Genetics and Metabolism, 121:70-79.  (From the Consensus Proceedings  on Cognitive Endpoints in MPS)

Janzen D, Delaney K, Shapiro E. (2017).  Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature. Molecular Genetics and Metabolism, 121:57-69. (From the Consensus Proceedings  on Cognitive Endpoints in MPS)

Pierpont R., Eisengart JB, Shanley R, Nascene D, Raymond GV, Shapiro EG, Ziegler RS, Orchard PJ, Miller WP. Neurocognitive trajectory of boys transplanted at an early stage of childhood cerebral adrenoleukodystrophy.   JAMA Neurology.  doi:10.1001/jamaneurol.2017.0013

Shapiro E, Ahmed A, Whitley, C, and Delaney, K.  Observing the advanced disease course in mucopolysaccharidosis, type  IIIA; a case series, Molecular Genetics and Metabolism, https://doi.org/10.1016/j.ymgme.2017.11.014

Shapiro EG, Escolar ML, Delaney KA, Mitchell JJ.  (2017). Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses. Molecular Genetics and Metabolism 122:8-16.

Shapiro EG, Jones SA, Escolar ML. (2017).  Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms. Molecular Genetics and Metabolism 122:1-7

Escolar ML, Jones SA, Shapiro EG, Horovitz DD, Lampe C, Amartino H. (2017) Practical management of behavioral problems in mucopolysaccharidoses disorders. Molecular Genetics and Metabolism 122:35-40. 

Shapiro E, Bernstein J, Adams H, Barbier A, Buracchio T Como P, Delaney K, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink J, Odenkirchen J, Parisi M, Skrinar A, Waisbren S, Mulberg AE. (2016) Neurocognitive Clinical Outcome Assessments for Diseases of Inborn Errors of Metabolism and Other Rare Conditions. Molecular Genetics and Metabolism. 118(2), 65-69. 

Shapiro E,  Nestrasil I, Delaney K, Rudser K, , Kovac V, Nair N, Richard, C, Haslett P, Whitley C. (2016) A prospective  natural history study of Mucopolysaccharidosis Type IIIA. Journal of Pediatrics. 170, 278-87. 

 Shapiro E, Nestrasil I, Rudser K. Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar S, Cagle S, Ali N, Steiner RD, Woznia J, Lim KO, Whitley CB (2015).  Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.  Molecular Genetics and Metabolism   116 (1), 61-68.

Shapiro E, Rudser K, Ahmed A, Steiner R, Delaney K, Yund B, King K, Kunin Batson A, Eisengart J, Whitley C. A (2016) A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Molecular Genetics and Metabolism Reports. 7, 32-39.

Shapiro E, King K, Ahmed A, Rudser K , Rumsey R, Yund B, Delaney K, Nestrasil I, Whitley C, Potegal M. (2016) The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study.  Molecular Genetics and Metabolism Reports. 6, 41–47.

Kunin-Batson A, Shapiro E,  Rudser K, Lavery C, Bjoraker K, Jones S, Wynn RF, Vellodi A, Tolar J, Orchard P,  Wraith E. (2016) Long-term cognitive and functional outcomes in children with Mucopolysaccharidosis, MPS IH (Hurler syndrome) treated with hematopoietic cell transplantation. Journal of Inherited and Metabolic Disease Reports. DOI 10.1007/8904_2015_521/ 30 Jan. Pp 1-8.

Ahmed A, Shapiro E, Rudser K, Kunin-Batson A, King K, Whitley CA. (2016)  Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI. Molecular Genetics and Metabolism Reports 7, 27-31.

Ahmed, Rudser K, Kunin-Batson A, Delaney K, Whitley C, Shapiro E. (2015). Mucopolysaccharidosis (MPS) Specific Physical Symptom Score- Development, Reliability and Validity.  Journal of Inherited Disease Reports.  In press.

Shapiro E, Nestrasil I, Ahmed A, Wey A , Rudser K, Delaney K, Rumsey R, Haslett P, Whitley CB, Potegal M. (2015) Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale. Molecular Genetics and Metabolism, 114 (4), 594-598.

Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak J, Lim K, Delaney K, Whitley C, Shapiro EG. (2015) Cognitive, Medical, and Neuroimaging Characteristics of Attenuated Mucopolysaccharidosis Type II. Molecular Genetics and Metabolism, 114 (2), 170-177. 

Delaney K, Rudser K, Yund B, Whitley C, Haslett P, Shapiro E. (2013). Methods in neuropsychological assessment in children with neurodegenerative disease: Sanfilippo syndrome. Journal of Inherited Metabolic Disease Reports. DOI/10.1007/8904_2013_269. 

Potegal M, Yund B, Delaney K, Ahmed A, Nestrasil I, Whitley C, Shapiro E. (2013). Mucopolysaccharidosis Type IIIA presents as a variant of Klüver–Bucy Syndrome: Journal of Clinical and Experimental Neuropsychology. 35, 608-616. 

Ahmed A, Whitley CB, Cooksley R, Rudser K, Cagle S, Ali N., Delaney K, Yund B, Shapiro E. (2014). Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Molecular Genetics and Metabolism. 111, 123-127. 

Rumsey R, Rudser K, Delaney K, Ahmed A, Potegal M, Whitley C, Shapiro E. (2014). Acquired Autistic Behaviors in Children with MPSIIIA. Journal of Pediatrics. 164 (5), 1147-1151.

Eisengart J, Rudser K, Ziegler R, Tolar J, Orchard P, Whitley, C., Shapiro E. (2013). Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. Journal of Pediatrics. 162, 375-380.

Shapiro E, Guler E, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J, Orchard P, Provenzale J, Thomas K. (2012). An exploratory study of brain function and structure in Mucopolysaccharidosis Type I: Long term observations following hematopoietic cell transplantation (HCT). Molecular Genetics and Metabolism. 107,116-21.

Bjoraker, K., K. Delaney, Peters, C., W. Krivit, Shapiro, E. (2006). Long Term Outcomes of Adaptive Functions for Children with MPS I. Journal of Behavioral and Developmental Pediatrics, 27, 290-296.

Shapiro, E., Krivit, W. , Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., Ziegler, R., Crittenden, M., Ris, D., Berg, B., Cox, C., Moser, H., Fischer, A., Aubourg, P. (2000). Long-term beneficial effect of bone marrow transplantation for childhood onset cerebral X-linked adrenoleukodystrophy. Lancet. 356, 713-718.

Öz, G., Tkác,I., Charnas, L., Choi, I-Y, Bjoraker, K. Shapiro, E., Gruetter, R. (2005). Assessment of Adrenoleukodystrophy Lesions by High Field MRS in Non-sedated Pediatric Patients. Neurology, 64, 434-441. 

Tolar J, Orchard P, Bjorake K, Ziegler R, Shapiro E, Charnas, L. (2007). N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy. Bone Marrow Transplantation. 39, 211-215.

Shapiro, E., Lockman, L., Knopman, D., and Krivit, W. (1994). Characteristics of the dementia in late-onset metachromatic leukodystrophy. Neurology, 44, 662-665. 

Bangirana P, Opoka RO, Boivin MJ, Idro R, Hodges JS, Romero RA, Shapiro E, John CC. (2014) Severe malarial anemia is associated with long-term neurocognitive impairment. Clinical Infectious Diseases 59 (3), 336-44. 

Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ. (2009). Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 43,21-27. 

Pastores G, Arn P, Beck M, Clarke J, Guffon N, Kaplan P, Muenzer J, Norato D, Shapiro E, Thomas J, Viskochil D, & Wraith J. (2007). The MPS I Registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Molecular Genetics and Metabolism. 91, 37-47.

Wraith, J.E., Beck, M., Lane, R., vander Ploeg, A. Shapiro, E., Guffon, N. (2007). Enzyme replacement therapy for mucopolysaccharidosis I patients less than 5 years old: Results of a multinational study of recombinant human alpha-L-iduonidase (laronidase). Pediatrics. 120, e37-e46.

Relevant Book Chapters

Ziegler, R., Shapiro, E. (2010) Metabolic neurodegenerative diseases across the lifespan. Ch. 15 in J Donders & S Hunter, Principles and Practice of Lifespan Developmental Neuropsychology, Cambridge University Press, New York: Pp. 427-448. 

Charnas, L., Ziegler, R., Shapiro, E. (2004). Pediatric chronic disease. In M. Rizzo & P. Eslinger (Eds.). Principles and Practice of Behavioral Neurology and Neuropsychology, Philadelphia, PA: Saunders, Ch. 46, Pp. 983-999. 

Shapiro, E. and Balthazor, M. (2000). Metabolic and neurodegenerative disorders of childhood. In G. Taylor, D. Ris, & K. Yeates (Eds) Pediatric Neuropsychology: Research, Theory and Practice. Guilford Press. Pp. 171-205.