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Research challenges in central nervous system manifestations of inborn errors of metabolism.

Publication ,  Journal Article
Dickson, PI; Pariser, AR; Groft, SC; Ishihara, RW; McNeil, DE; Tagle, D; Griebel, DJ; Kaler, SG; Mink, JW; Shapiro, EG; Bjoraker, KJ ...
Published in: Mol Genet Metab
March 2011
Published version (DOI) Link to item

The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.

Duke Scholars

James Michael Provenzale
Author James Michael Provenzale Radiology, Neuroradiology
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Published In

Mol Genet Metab

DOI

10.1016/j.ymgme.2010.11.164

EISSN

1096-7206

Publication Date

March 2011

Volume

102

Issue

3

Start / End Page

326 / 338

Location

United States

Related Subject Headings

  • Rare Diseases
  • Metabolism, Inborn Errors
  • Humans
  • Genetics & Heredity
  • Clinical Trials as Topic
  • Central Nervous System
  • Biomedical Research
  • Animals
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Dickson, P. I., Pariser, A. R., Groft, S. C., Ishihara, R. W., McNeil, D. E., Tagle, D., … Patterson, M. C. (2011). Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab, 102(3), 326–338. https://doi.org/10.1016/j.ymgme.2010.11.164
Dickson, P. I., A. R. Pariser, S. C. Groft, R. W. Ishihara, D. E. McNeil, D. Tagle, D. J. Griebel, et al. “Research challenges in central nervous system manifestations of inborn errors of metabolism.” Mol Genet Metab 102, no. 3 (March 2011): 326–38. https://doi.org/10.1016/j.ymgme.2010.11.164.
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, et al. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar;102(3):326–38.
Dickson, P. I., et al. “Research challenges in central nervous system manifestations of inborn errors of metabolism.” Mol Genet Metab, vol. 102, no. 3, Mar. 2011, pp. 326–38. Pubmed, doi:10.1016/j.ymgme.2010.11.164.
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar;102(3):326–338.
Journal cover image

Published In

Mol Genet Metab

DOI

10.1016/j.ymgme.2010.11.164

EISSN

1096-7206

Publication Date

March 2011

Volume

102

Issue

3

Start / End Page

326 / 338

Location

United States

Related Subject Headings

  • Rare Diseases
  • Metabolism, Inborn Errors
  • Humans
  • Genetics & Heredity
  • Clinical Trials as Topic
  • Central Nervous System
  • Biomedical Research
  • Animals
  • 3202 Clinical sciences
  • 3105 Genetics