PMID: 3770005Sep 1, 1986Paper

Salla disease in one non-Finnish patient

European Journal of Pediatrics
B EchenneJ Astruc

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.

Citations

Apr 1, 1990·European Journal of Pediatrics·W SperlE Paschke
May 7, 2002·Pediatric Neurology·Tarja T VarhoPertti P Aula
Jul 30, 2003·Genetic Testing·E M Strehle
Jan 1, 1996·Journal of Medical Genetics·J SchleutkerP Aula
Apr 1, 1991·The Journal of Clinical Investigation·G M ManciniF W Verheijen
Jun 10, 2003·American Journal of Medical Genetics. Part a·Robert KletaWilliam A Gahl
Oct 1, 1987·American Journal of Medical Genetics·M Renlund, P Aula
Jun 19, 2007·Clinical Journal of Oncology Nursing·Dawn Camp-Sorrell

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