Article
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
Human mutation - 1 Apr 2004
Ranta Susanna, Topcu Meral, Tegelberg Saara, Tan Hüseyin, Ustübütün Alp, Saatci Isil, Dufke Andreas, Enders Herbert, Pohl Keith, Alembik Yves, Mitchell Wayne A, Mole Sara E, Lehesjoki Anna-Elina
Abstract excerpt
Childhood-onset neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of autofluorescent material in various tissues, notably in neurons. Based on clinical features, the country of origin of patients, and the molecul...
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