Neuronal Ceroid Lipofuscinosis (NCL) are reviewed. All four main types are progressive encephalopathies characterized by neuronal and extraneuronal accumulation of ceroid and lipofuscin like storage cytosomes. The pathogenesis of NCL is still unknown, in most subtypes. This review concerns recent advances in genetic studies, broadening of the clinical spectrum of NCL and progress in prenatal diagnosis.
Le ceroido-lipofuscinosi neuronali / Cardona, Francesco Carmelo Giovanni; N., Nardocci; E., Rosati. - In: GIORNALE DI NEUROPSICOFARMACOLOGIA. - ISSN 0391-9048. - STAMPA. - 19:3(1997), pp. 53-58.
Le ceroido-lipofuscinosi neuronali
CARDONA, Francesco Carmelo Giovanni;
1997
Abstract
Neuronal Ceroid Lipofuscinosis (NCL) are reviewed. All four main types are progressive encephalopathies characterized by neuronal and extraneuronal accumulation of ceroid and lipofuscin like storage cytosomes. The pathogenesis of NCL is still unknown, in most subtypes. This review concerns recent advances in genetic studies, broadening of the clinical spectrum of NCL and progress in prenatal diagnosis.File allegati a questo prodotto
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