A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review
Source: Cerebellum
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation –A single centre experience of 56 cases
Source: Journal of the Neurological Sciences
Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family
Source: Seizure
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
Source: Genetics in Medicine
Direct Convective Delivery for Nervous System Gene Therapy
Source: Neurosurgery Clinics of North America
For Patient Families
To support patients and caregivers, Elsevier Health is making the latest research on these rare disorders available upon request at no cost.
Learn More
Note:
User acknowledges that these materials are provided for use at no charge as part of Elsevier’s efforts to support healthcare providers and patients. The information contained within the website is intended as a supplement to, and not a substitute for, the knowledge, expertise, skill and judgment of healthcare professionals involved in patient care. The content within this page may not be re-used, modified or re-distributed without prior written permission.
Cookies are used by this site. To decline or learn more, visit our cookie notice.
Copyright © 2024 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
