A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene-Reference-Cited by-同舟云学术

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A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene

Published:2021-12-13 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Hassan Moath,Alharbi Mohammed A,Alhassani Reem Y,Hussain ARWA A,Kamfar Ramziyyah Y

Publisher

Cureus, Inc.

Subject

Aerospace Engineering

Reference8 articles.

1. Sialidoses;Franceschetti S;Epileptic Disord,2016

2. Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts;Cantz M;Biochem Biophys Res Commun,1977

3. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis;Bonten EJ;Hum Mol Genet,2000

4. Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients;Arora V;Mol Genet Metab Rep,2020

5. Proteinuria in a child with sialidosis: case report and histological studies;Kashtan CE;Pediatr Nephrol,1989

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