Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome

De Falco, A; Karali, M; Criscuolo, C; Testa, F; Barillari, MR; Scarpato, M; Gaudieri, V; Cuocolo, A; Russo, A; Nigro, V; Simonelli, F; Banfi, S; Brunetti-Pierri, N

Brunetti-Pierri, N (通讯作者)，Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy.;Banfi, S (通讯作者)，Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy.;Banfi, S; Brunetti-Pierri, N (通讯作者)，Telethon Inst Genet & Med TIGEM, Pozzuoli, Italy.;Brunetti-Pierri, N (通讯作者)，Univ Naples Federico II, Sch Adv Studies, Genom & Expt Med Program, Naples, Italy.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023; ():

Abstract

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic var......

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