Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked (free) sialic acid in multiple tissues. ISSD and Salla disease (a predominantly neurological disorder) are allelic disorders caused by recessive mutations of a lysosomal a...

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Main Authors: Lines, Matthew A., Rupar, C. Anthony, Rip, Jack W., Baskin, Berivan, Ray, Peter N., Hegele, Robert A., Grynspan, David, Michaud, Jean, Geraghty, Michael T.
Format: Text
Language:English
Published: Springer International Publishing 2013
Subjects:
Article
Salla
inuit
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797
http://www.ncbi.nlm.nih.gov/pubmed/23900835
https://doi.org/10.1007/8904_2013_247
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spelling ftpubmed:oai:pubmedcentral.nih.gov:3897797 2023-05-15T16:55:00+02:00 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. 2013-07-31 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797 http://www.ncbi.nlm.nih.gov/pubmed/23900835 https://doi.org/10.1007/8904_2013_247 en eng Springer International Publishing http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797 http://www.ncbi.nlm.nih.gov/pubmed/23900835 http://dx.doi.org/10.1007/8904_2013_247 © SSIEM and Springer-Verlag Berlin Heidelberg 2013 2013 Article Text 2013 ftpubmed https://doi.org/10.1007/8904_2013_247 2014-01-26T01:47:52Z Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked (free) sialic acid in multiple tissues. ISSD and Salla disease (a predominantly neurological disorder) are allelic disorders caused by recessive mutations of a lysosomal anionic monosaccharide transporter, SLC17A5. While Salla disease is common in Finland due to a founder-effect mutation (p.Arg39Cys), ISSD is comparatively rare in all populations studied. Text inuit PubMed Central (PMC) Salla ENVELOPE(28.667,28.667,66.833,66.833) 79 84
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Article
spellingShingle Article
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
topic_facet Article
description Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked (free) sialic acid in multiple tissues. ISSD and Salla disease (a predominantly neurological disorder) are allelic disorders caused by recessive mutations of a lysosomal anionic monosaccharide transporter, SLC17A5. While Salla disease is common in Finland due to a founder-effect mutation (p.Arg39Cys), ISSD is comparatively rare in all populations studied.
format Text
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.
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797
http://www.ncbi.nlm.nih.gov/pubmed/23900835
https://doi.org/10.1007/8904_2013_247
long_lat ENVELOPE(28.667,28.667,66.833,66.833)
geographic Salla
geographic_facet Salla
genre inuit
genre_facet inuit
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797
http://www.ncbi.nlm.nih.gov/pubmed/23900835
http://dx.doi.org/10.1007/8904_2013_247
op_rights © SSIEM and Springer-Verlag Berlin Heidelberg 2013 2013
op_doi https://doi.org/10.1007/8904_2013_247
container_start_page 79
op_container_end_page 84
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