Annals of Internal Medicine · 1973 · 53 citations · 9 references
MedicineNeurologyPathologyNeurodegenerationNeurogeneticsNeuropathologyHereditary NeuropathiesNeurodevelopmental DisordersNeurogenetic DisordersGaucher DiseaseNeurologic DeficitsPediatric Neurogenetic DisordersSibling Involvement
Two adult siblings with biochemically and histologically documented Gaucher's disease as well as a similar diffuse neurologic disorder are presented. The family history suggests that a third, deceased sibling also had a similar neurologic disorder associated with Gaucher's disease. There have been no previous reports of a similar neurologic disorder in adult-type Gaucher's disease.
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Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood
John P. Kampine, Roscoe O. Bardy, Julian N. Kanfer et al. · Science · 1967 · 288 citations