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Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

Publication ,  Journal Article
Boelens, JJ; Prasad, VK; Tolar, J; Wynn, RF; Peters, C
Published in: Pediatr Clin North Am
February 2010

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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Published In

Pediatr Clin North Am

DOI

EISSN

1557-8240

Publication Date

February 2010

Volume

57

Issue

1

Start / End Page

123 / 145

Location

United States

Related Subject Headings

  • Pediatrics
  • Metabolism, Inborn Errors
  • International Cooperation
  • Humans
  • Hematopoietic Stem Cell Transplantation
  • Genetic Predisposition to Disease
  • Child
  • Biomedical Research
  • 3213 Paediatrics
  • 1114 Paediatrics and Reproductive Medicine
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Boelens, J. J., Prasad, V. K., Tolar, J., Wynn, R. F., & Peters, C. (2010). Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr Clin North Am, 57(1), 123–145. https://doi.org/10.1016/j.pcl.2009.11.004
Boelens, Jaap J., Vinod K. Prasad, Jakub Tolar, Robert F. Wynn, and Charles Peters. “Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.Pediatr Clin North Am 57, no. 1 (February 2010): 123–45. https://doi.org/10.1016/j.pcl.2009.11.004.
Boelens JJ, Prasad VK, Tolar J, Wynn RF, Peters C. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr Clin North Am. 2010 Feb;57(1):123–45.
Boelens, Jaap J., et al. “Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.Pediatr Clin North Am, vol. 57, no. 1, Feb. 2010, pp. 123–45. Pubmed, doi:10.1016/j.pcl.2009.11.004.
Boelens JJ, Prasad VK, Tolar J, Wynn RF, Peters C. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr Clin North Am. 2010 Feb;57(1):123–145.
Journal cover image

Published In

Pediatr Clin North Am

DOI

EISSN

1557-8240

Publication Date

February 2010

Volume

57

Issue

1

Start / End Page

123 / 145

Location

United States

Related Subject Headings

  • Pediatrics
  • Metabolism, Inborn Errors
  • International Cooperation
  • Humans
  • Hematopoietic Stem Cell Transplantation
  • Genetic Predisposition to Disease
  • Child
  • Biomedical Research
  • 3213 Paediatrics
  • 1114 Paediatrics and Reproductive Medicine