Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
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2013
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Online Access: | http://dx.doi.org/10.1007/8904_2013_247 http://link.springer.com/content/pdf/10.1007/8904_2013_247 |
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crspringernat:10.1007/8904_2013_247 2024-03-10T08:35:35+00:00 Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation Lines, Matthew A. Rupar, C. Anthony Rip, Jack W. Baskin, Berivan Ray, Peter N. Hegele, Robert A. Grynspan, David Michaud, Jean Geraghty, Michael T. 2013 http://dx.doi.org/10.1007/8904_2013_247 http://link.springer.com/content/pdf/10.1007/8904_2013_247 unknown Springer International Publishing JIMD Reports JIMD Reports - Volume 12 page 79-84 ISSN 2192-8304 2192-8312 ISBN 9783319034607 9783319034614 book-chapter 2013 crspringernat https://doi.org/10.1007/8904_2013_247 2024-02-13T14:31:27Z Book Part inuit Springer Nature 79 84 |
institution |
Open Polar |
collection |
Springer Nature |
op_collection_id |
crspringernat |
language |
unknown |
format |
Book Part |
author |
Lines, Matthew A. Rupar, C. Anthony Rip, Jack W. Baskin, Berivan Ray, Peter N. Hegele, Robert A. Grynspan, David Michaud, Jean Geraghty, Michael T. |
spellingShingle |
Lines, Matthew A. Rupar, C. Anthony Rip, Jack W. Baskin, Berivan Ray, Peter N. Hegele, Robert A. Grynspan, David Michaud, Jean Geraghty, Michael T. Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation |
author_facet |
Lines, Matthew A. Rupar, C. Anthony Rip, Jack W. Baskin, Berivan Ray, Peter N. Hegele, Robert A. Grynspan, David Michaud, Jean Geraghty, Michael T. |
author_sort |
Lines, Matthew A. |
title |
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation |
title_short |
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation |
title_full |
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation |
title_fullStr |
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation |
title_full_unstemmed |
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation |
title_sort |
infantile sialic acid storage disease: two unrelated inuit cases homozygous for a common novel slc17a5 mutation |
publisher |
Springer International Publishing |
publishDate |
2013 |
url |
http://dx.doi.org/10.1007/8904_2013_247 http://link.springer.com/content/pdf/10.1007/8904_2013_247 |
genre |
inuit |
genre_facet |
inuit |
op_source |
JIMD Reports JIMD Reports - Volume 12 page 79-84 ISSN 2192-8304 2192-8312 ISBN 9783319034607 9783319034614 |
op_doi |
https://doi.org/10.1007/8904_2013_247 |
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79 |
op_container_end_page |
84 |
_version_ |
1793131989310636032 |