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Cited by 109

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Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

Boelens, Jaap J., Prasad, Vinod K., Tolar, Jakub, Wynn, Robert F., Peters, Charles·2010·Pediatric Clinics of North America
DOI 10.1016/j.pcl.2009.11.004
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Abstract

Inherited metabolic disorders (IMD) or inborn errors of metabolism are a diverse group of diseases arising from genetic defects in lysosomal enzymes or peroxisomal function. These diseases are characterized by devastating systemic processes affecting neurologic and cognitive function, growth and development, and cardiopulmonary status. Onset in infancy or early childhood is typically accompanied by rapid deterioration. Early death is a common outcome. Timely diagnosis and immediate referral to an IMD specialist are essential steps in management of these disorders. Treatment recommendations are based on the disorder, its phenotype including age at onset and rate of progression, severity of clinical signs and symptoms, family values and expectations, and the risks and benefits associated with available therapies such as allogeneic hematopoietic stem cell transplantation (HSCT). This review discusses indications for HSCT and outcomes of HSCT for selected IMD. An international perspective on progress, limitations, and future directions in the field is provided.

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Metadata

Authors
Boelens, J. J., Prasad, V. K., Tolar, J., Wynn, R. F., & Peters, C.
Venue
Pediatric Clinics of North America
Publisher
Elsevier BV
Published
2010-02
Volume
57
Issue
1
Pages
123-145
ISSN
0031-3955
DOI
10.1016/j.pcl.2009.11.004
Cited by
109
References
9
Language
en
Licence

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