Introduction to Glycoprotein Storage Diseases

Durand, P.; O’Brien, John S.

doi:10.1007/978-3-642-51582-8_1

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1984

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“…Before 15 years a progressive dementia begins. Most patients are found in the northern part of Finland, the disease being inherited as an autosomal recessive trait [Autio, 1972;Autio et al, 19731, but at least 11 non-Finnish cases are known [Durand and O'Brien, 1982;Gatti et al, 19821. The clinical and biochemical uniformity of all cases reported in the literature [Palo et al, 19731 including the sister of our propositus suggests the presence of an identical genetic defect.…”

Section: Discussionmentioning

confidence: 99%