Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies

Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features inc...

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Veröffentlicht in:	Turkish journal of pediatrics 2004-01, Vol.46 (1), p.1-10
Hauptverfasser:	Topçu, Meral, Tan, Hüseyin, Yalnizoğlu, Dilek, Usubütün, Alp, Saatçi, Işil, Aynaci, Müjgan, Anlar, Banu, Topaloğlu, Haluk, Turanli, Güzide, Köse, Gülşen, Aysun, Sabiha
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool Electroretinography Female Humans Magnetic Resonance Imaging Male Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - epidemiology Neuronal Ceroid-Lipofuscinoses - genetics Phenotype Turkey - epidemiology
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