Article
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.
Neuropediatrics - 1 Oct 1994
Haataja L, Parkkola R, Sonninen P, Vanhanen S L, Schleutker J, Aärimaa T, Turpeinen U, Renlund M, Aula P
Abstract excerpt
Salla disease (SD) is a recessively inherited lysosomal storage disorder particularly common in the Finnish population. Patients with SD are normal at birth, but develop psychomotor delay and ataxia during the first year of life. Phenotypic variation of SD is wide, ranging from severely disabled...
Topics
- Adolescent
- Adult
- Brain
- Child
- Chromosomes, Human, Pair 6
- Female
- Genetic Linkage
- Genetic Variation
- Humans
- Lysosomal Storage Diseases
- Magnetic Resonance Imaging
- Male
- Nerve Fibers, Myelinated
- Pedigree
- Phenotype
- Sialic Acids