Selection Of Relevant Peer Reviewed Journal Publications

 

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.