Newborn screening for Krabbe disease in New York State: the first eight years’ experience
Newborn screening for Krabbe disease in New York State: the first eight years’ experience
About this item
Full title
Author / Creator
the New York State Krabbe Disease Consortium , New York State Krabbe Disease Consortium , Orsini, Joseph J. , Kay, Denise M. , Saavedra-Matiz, Carlos A. , Wenger, David A. , Duffner, Patricia K. , Erbe, Richard W. , Biski, Chad , Martin, Monica , Krein, Lea M. , Nichols, Matthew , Kurtzberg, Joanne , Escolar, Maria L. , Adams, Darius J. , Arnold, Georgianne L. , Iglesias, Alejandro , Galvin-Parton, Patricia , Kronn, David F. , Kwon, Jennifer M. , Levy, Paul A. , Pellegrino, Joan E. , Shur, Natasha , Wasserstein, Melissa P. and Caggana, Michele
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New York State (NYS) implemented newborn screening for KD in 2006.
Dried blood spots from newborns wer...
Alternative Titles
Full title
Newborn screening for Krabbe disease in New York State: the first eight years’ experience
Authors, Artists and Contributors
Author / Creator
New York State Krabbe Disease Consortium
Orsini, Joseph J.
Kay, Denise M.
Saavedra-Matiz, Carlos A.
Wenger, David A.
Duffner, Patricia K.
Erbe, Richard W.
Biski, Chad
Martin, Monica
Krein, Lea M.
Nichols, Matthew
Kurtzberg, Joanne
Escolar, Maria L.
Adams, Darius J.
Arnold, Georgianne L.
Iglesias, Alejandro
Galvin-Parton, Patricia
Kronn, David F.
Kwon, Jennifer M.
Levy, Paul A.
Pellegrino, Joan E.
Shur, Natasha
Wasserstein, Melissa P.
Caggana, Michele
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1769983209
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1769983209
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.211
