The first case of the Sanfilippo type C syndrome in Scandinavia
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1103033
- author
- Arvidsson, J ; Chester, Alan LU and Hecht, H
- organization
- publishing date
- 1983
- 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
- Wiley-Blackwell
- 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
- 2016-04-01 17:11:48
- date last changed
- 2021-01-03 11:09:03
@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}}, keywords = {{acetyl-CoA: glucosamine N-acetyltransferase; Sanfilippo C; Mucopolysaccharidosis}}, language = {{eng}}, number = {{2}}, pages = {{313--316}}, publisher = {{Wiley-Blackwell}}, 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}}, doi = {{10.1111/j.1651-2227.1983.tb09720.x}}, volume = {{72}}, year = {{1983}}, }