Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.

Debray, François-Guillaume; Lefebvre, Caroline; Colinet, Stephanie; Segers, Karin; Stevens, Rene

doi:10.1016/j.jpeds.2010.06.057

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Article (Scientific journals)

Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.

Debray, François-Guillaume; Lefebvre, Caroline; Colinet, Stephanie et al.

2011 • In Journal of Pediatrics, 158 (1), p. 165, 165.e1

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/82480

DOI
10.1016/j.jpeds.2010.06.057

PubMed
20728092

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Keywords :

Cerebral Palsy/blood/diagnosis; Child; Diagnosis, Differential; Hematologic Tests; Humans; Male; Sialic Acid Storage Disease/blood/diagnosis

Disciplines :

Genetics & genetic processes

Author, co-author :

Debray, François-Guillaume ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Lefebvre, Caroline ; Centre Hospitalier Universitaire de Liège - CHU > Direction médicale

Colinet, Stephanie

Segers, Karin ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Stevens, Rene

Language :

English

Title :

Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.

Publication date :

2011

Journal title :

Journal of Pediatrics

ISSN :

0022-3476

eISSN :

1097-6833

Publisher :

Mosby, St Louis, United States - Missouri

Volume :

158

Issue :

Pages :

165, 165.e1

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 20 January 2011

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Bibliography

P. Aula, and W.A. Gahl Disorders of free sialic acid storage C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly, The Metabolic and Molecular Bases of Inherited Disease 8th ed 2001 McGraw-Hill New York 5109 5120
R.P. Morse, R. Kleta, J. Alroy, and W.A. Gahl Novel form of intermediate Salla disease: clinical and neuroimaging features J Child Neurol 20 2005 814 816