The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview-Reference-Cited by-同舟云学术

The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

Published:2016-04-26 Issue:01 Volume:06 Page:060-065
ISSN:1879-5390
Container-title:Journal of Pediatric Biochemistry
language:en
Short-container-title:J Pediatr Biochem

Author:

Grisolia Michele¹,Sestito Simona¹,Ceravolo Ferdinando¹,Invernizzi Federica²,Salpietro Vincenzo³,Polizzi Agata⁴,Ruggieri Martino⁵,Garavaglia Barbara²,Concolino Daniela¹

Affiliation:

1. Department of Medical and Surgical Sciences, Pediatric Unit, University Magna Graecia of Catanzaro, Catanzaro, Italy

2. Unit of Molecular Neurogenetics, Institute of Neurology Foundation Carlo Besta IRCCS, Milan, Italy

3. Department of Pediatrics, University of Messina, Messina, Italy

4. National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

5. Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

Publisher

Georg Thieme Verlag KG

Subject

Biochemistry, medical,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0036-1582222.pdf

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy;Drugs;2020-11-26

2. A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis;Journal of Veterinary Internal Medicine;2019-12-20

3. Advances in the treatment of neuronal ceroid lipofuscinosis;Expert Opinion on Orphan Drugs;2019-11-02

4. Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report;Journal of Medical Case Reports;2018-09-25