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Schema
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LiteratureReference
>
Entries
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
Show undefined attributes
author
[Person:1638069] Valstar, MJ
[Person:1638048] Bertoli-Avella, AM
[Person:429054] Wessels, MW
[Person:1638030] Ruijter, GJ
[Person:1638041] de Graaf, B
[Person:1638061] Olmer, R
[Person:1638062] Elfferich, P
[Person:1638029] Neijs, S
[Person:1638055] Kariminejad, R
[Person:1638028] Suheyl Ezgü, F
[Person:1638049] Tokatli, A
[Person:1638051] Czartoryska, B
[Person:1638027] Bosschaart, AN
[Person:1638067] van den Bos-Terpstra, F
[Person:1638043] Puissant, H
[Person:1638060] Bürger, F
[Person:1638050] Omran, H
[Person:1638052] Eckert, D
[Person:1638034] Filocamo, M
[Person:1638045] Simeonov, E
[Person:1638054] Willems, PJ
[Person:1638042] Wevers, RA
[Person:1638068] Niermeijer, MF
[Person:1638044] Halley, DJ
[Person:1638046] Poorthuis, BJ
[Person:1638071] van Diggelen, OP
created
[InstanceEdit:1638039] Jassal, B, 2011-10-06
dbId
1638066
displayName
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
journal
Hum Mutat
pages
E1348-60
pubMedIdentifier
20232353
schemaClass
LiteratureReference
title
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
url
http://www.ncbi.nlm.nih.gov/pubmed/20232353
volume
31
year
2010
Referrals
(literatureReference)
[FailedReaction:R-HSA-2263495] Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S
[Reaction:R-HSA-1638032] GNS:Ca2+ cleaves sulfate from GlcNAc-6-sulfate units of keratan sulfate
(author)
[Person:1638055] Kariminejad, R
[Person:1638054] Willems, PJ
[Person:1638052] Eckert, D
[Person:1638051] Czartoryska, B
[Person:1638050] Omran, H
[Person:1638049] Tokatli, A
[Person:429054] Wessels, MW
[Person:1638048] Bertoli-Avella, AM
[Person:1638062] Elfferich, P
[Person:1638061] Olmer, R
[Person:1638060] Bürger, F
[Person:1638071] van Diggelen, OP
[Person:1638069] Valstar, MJ
[Person:1638068] Niermeijer, MF
[Person:1638067] van den Bos-Terpstra, F
[Person:1638030] Ruijter, GJ
[Person:1638029] Neijs, S
[Person:1638028] Suheyl Ezgü, F
[Person:1638027] Bosschaart, AN
[Person:1638034] Filocamo, M
[Person:1638046] Poorthuis, BJ
[Person:1638045] Simeonov, E
[Person:1638044] Halley, DJ
[Person:1638043] Puissant, H
[Person:1638042] Wevers, RA
[Person:1638041] de Graaf, B
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