Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

<i>Background</i>: Sialidosis is a rare autosomal recessive disease caused by <i>NEU1</i> mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on resi...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Antonietta Coppola, Marta Ianniciello, Ebru N. Vanli-Yavuz, Settimio Rossi, Francesca Simonelli, Barbara Castellotti, Marcello Esposito, Stefano Tozza, Serena Troisi, Marta Bellofatto, Lorenzo Ugga, Salvatore Striano, Alessandra D’Amico, Betul Baykan, Pasquale Striano, Leonilda Bilo
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2020-08-01
Serie:	Brain Sciences
Soggetti:	type-1-sialidosis myoclonus brain MRI cherry-red spot giant SEP jerk-locked back averaging analysis
Accesso online:	https://www.mdpi.com/2076-3425/10/8/506
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!