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Yield of additional metabolic studies in neurodevelopmental disorders

Engbers, Hannelie M. ; Berger, Ruud ; Van Hasselt, Peter ; De Koning, Tom LU ; De Sain-Van Der Velden, Monique G.M. ; Kroes, Hester Y. and Visser, Gepke (2008) In Annals of Neurology 64(2). p.212-217
Abstract

The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with... (More)

The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with neurodevelopmental disorders.

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author
; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
in
Annals of Neurology
volume
64
issue
2
pages
6 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:51549118892
  • pmid:18570304
ISSN
0364-5134
DOI
10.1002/ana.21435
language
English
LU publication?
no
id
25ece758-3fd8-4643-a810-083110da2745
date added to LUP
2020-02-28 13:52:23
date last changed
2024-04-03 03:55:16
@article{25ece758-3fd8-4643-a810-083110da2745,
  abstract     = {{<p>The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with neurodevelopmental disorders.</p>}},
  author       = {{Engbers, Hannelie M. and Berger, Ruud and Van Hasselt, Peter and De Koning, Tom and De Sain-Van Der Velden, Monique G.M. and Kroes, Hester Y. and Visser, Gepke}},
  issn         = {{0364-5134}},
  language     = {{eng}},
  month        = {{08}},
  number       = {{2}},
  pages        = {{212--217}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Annals of Neurology}},
  title        = {{Yield of additional metabolic studies in neurodevelopmental disorders}},
  url          = {{http://dx.doi.org/10.1002/ana.21435}},
  doi          = {{10.1002/ana.21435}},
  volume       = {{64}},
  year         = {{2008}},
}