Yield of additional metabolic studies in neurodevelopmental disorders
(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
- 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
- publishing date
- 2008-08-01
- 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
- 2024-08-08 16:20:28
@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}}, }