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The first case of the Sanfilippo type C syndrome in Scandinavia

Arvidsson, J; Chester, Alan LU and Hecht, H (1983) In Acta Paediatrica Scandinavica 72(2). p.313-316
Abstract
A Swedish patient with typical symptoms of the Sanfilippo Syndrome (Mucopolysaccharidosis III) is described. The early onset of the disease, the presence of hepatomegaly, early dementia and the absence of umbilical bernia are consistent with the subgroup Sanfilippo A. Enzyme studies indicate the diagnosis Sanfilippo C, and thus the patient represents a more severe form of this subgroup than any of the four other patients hitherto described in detail.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
acetyl-CoA: glucosamine N-acetyltransferase, Sanfilippo C, Mucopolysaccharidosis
in
Acta Paediatrica Scandinavica
volume
72
issue
2
pages
313 - 316
publisher
Taylor & Francis
external identifiers
  • pmid:6404127
  • scopus:0020660004
ISSN
0001-656X
DOI
10.1111/j.1651-2227.1983.tb09720.x
language
English
LU publication?
yes
id
2da36826-2d67-4a1a-90ce-0ccc3d716617 (old id 1103033)
date added to LUP
2008-08-13 10:45:02
date last changed
2017-01-01 07:26:54
@article{2da36826-2d67-4a1a-90ce-0ccc3d716617,
  abstract     = {A Swedish patient with typical symptoms of the Sanfilippo Syndrome (Mucopolysaccharidosis III) is described. The early onset of the disease, the presence of hepatomegaly, early dementia and the absence of umbilical bernia are consistent with the subgroup Sanfilippo A. Enzyme studies indicate the diagnosis Sanfilippo C, and thus the patient represents a more severe form of this subgroup than any of the four other patients hitherto described in detail.},
  author       = {Arvidsson, J and Chester, Alan and Hecht, H},
  issn         = {0001-656X},
  keyword      = {acetyl-CoA: glucosamine N-acetyltransferase,Sanfilippo C,Mucopolysaccharidosis},
  language     = {eng},
  number       = {2},
  pages        = {313--316},
  publisher    = {Taylor & Francis},
  series       = {Acta Paediatrica Scandinavica},
  title        = {The first case of the Sanfilippo type C syndrome in Scandinavia},
  url          = {http://dx.doi.org/10.1111/j.1651-2227.1983.tb09720.x},
  volume       = {72},
  year         = {1983},
}