Presenterende symptomen bij het syndroom van Hurler : Handvatten voor een eerdere diagnose?
(2010) In Tijdschrift voor Kindergeneeskunde 78(4). p.149-154- Abstract
In this clinical case, the importance of early detection of Hurler syndrome for outcomes of stem cell transplantation in this patient population is illustrated. Nowadays, children with Hurler syndrome can be treated with stem cell transplantation, but the results largely depend on the moment of treatment. If the procedure is initiated in an early stage of disease, better results can be obtained. Therefore, early recognition of the disease is essential. In this study, the presenting symptoms of fifteen Dutch patients were studied. The median age of diagnosis was 10 months, but by timely recognition of typical facial features, macrocephaly, hepatosplenomegaly, and kyphosis all patients might have been diagnosed four months earlier on... (More)
In this clinical case, the importance of early detection of Hurler syndrome for outcomes of stem cell transplantation in this patient population is illustrated. Nowadays, children with Hurler syndrome can be treated with stem cell transplantation, but the results largely depend on the moment of treatment. If the procedure is initiated in an early stage of disease, better results can be obtained. Therefore, early recognition of the disease is essential. In this study, the presenting symptoms of fifteen Dutch patients were studied. The median age of diagnosis was 10 months, but by timely recognition of typical facial features, macrocephaly, hepatosplenomegaly, and kyphosis all patients might have been diagnosed four months earlier on average.
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- author
- Touw, C. M.L. ; Aldenhoven, M. ; Van Hasselt, P. M. ; Wijburg, F. A. ; Teunissen, Q. ; Van Der Ploeg, A. T. ; Mulder, M. F. ; Boelens, J. J. and De Koning, T. J. LU
- alternative title
- Presenting symptoms of Hurler's syndrome : Handles for an earlier diagnosis?
- publishing date
- 2010-01-01
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Tijdschrift voor Kindergeneeskunde
- volume
- 78
- issue
- 4
- pages
- 6 pages
- publisher
- Bohn Stafleu van Loghum
- external identifiers
-
- scopus:77956286581
- ISSN
- 0376-7442
- DOI
- 10.1007/BF03089895
- language
- Dutch
- LU publication?
- no
- id
- f5834b3c-a34c-4d90-a71d-ab0ab3befaec
- date added to LUP
- 2020-02-26 10:24:55
- date last changed
- 2022-02-01 03:56:46
@article{f5834b3c-a34c-4d90-a71d-ab0ab3befaec,
abstract = {{<p>In this clinical case, the importance of early detection of Hurler syndrome for outcomes of stem cell transplantation in this patient population is illustrated. Nowadays, children with Hurler syndrome can be treated with stem cell transplantation, but the results largely depend on the moment of treatment. If the procedure is initiated in an early stage of disease, better results can be obtained. Therefore, early recognition of the disease is essential. In this study, the presenting symptoms of fifteen Dutch patients were studied. The median age of diagnosis was 10 months, but by timely recognition of typical facial features, macrocephaly, hepatosplenomegaly, and kyphosis all patients might have been diagnosed four months earlier on average.</p>}},
author = {{Touw, C. M.L. and Aldenhoven, M. and Van Hasselt, P. M. and Wijburg, F. A. and Teunissen, Q. and Van Der Ploeg, A. T. and Mulder, M. F. and Boelens, J. J. and De Koning, T. J.}},
issn = {{0376-7442}},
language = {{mis}},
month = {{01}},
number = {{4}},
pages = {{149--154}},
publisher = {{Bohn Stafleu van Loghum}},
series = {{Tijdschrift voor Kindergeneeskunde}},
title = {{Presenterende symptomen bij het syndroom van Hurler : Handvatten voor een eerdere diagnose?}},
url = {{http://dx.doi.org/10.1007/BF03089895}},
doi = {{10.1007/BF03089895}},
volume = {{78}},
year = {{2010}},
}