A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

• Hoofdauteurs: Anastasiya Aleksandrovna Kozina (Auteur), Elena Grigorievna Okuneva (Auteur), Natalia Vladimirovna Baryshnikova (Auteur), Anna Yurievna Krasnenko (Auteur), Kirill Yurievich Tsukanov (Auteur), Olesya Igorevna Klimchuk (Auteur), Olga Borisovna Kondakova (Auteur), Anna Nikolaevna Larionova (Auteur), Tatyana Timofeevna Batysheva (Auteur), Ekaterina Ivanovna Surkova (Auteur), Peter Alekseevich Shatalov (Auteur), Valery Vladimirovich Ilinsky (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-08-01T00:00:00Z.
• Onderwerpen: article
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Abstract Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing...