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Eur J Pediatr. 1986 Sep;145(4):320-2.

Salla disease in one non-Finnish patient.

Abstract

In a 5-year-old boy, an early onset psychomotor retardation with non-progressive ataxia and without dysmorphic features, associated with lysosomal storage disease found on ultrastructural examination of the conjunctiva, led to the diagnosis of Salla disease. This was supported by a tenfold excretion of urinary free sialic acid, without abnormal oligosacchariduria or anomaly in lysosomal enzymes. This boy is a native of Southern France. Screening of urinary sialic acid has to be introduced in aetiological investigations of patients with apparently non-progressive psychomotor retardation associated with ataxia or dystonic movements.

PMID:
3770005
DOI:
10.1007/bf00439413
[Indexed for MEDLINE]

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