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About 275 results

ALLMedicine™ Neuronal Ceroid Lipofuscinoses Center

Research & Reviews  107 results

Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 D...
https://doi.org/10.1055/s-0042-1750729
Neuropediatrics Schwering C, Apostolidou S et. al.

Jul 18th, 2022 - The 12 years old male patient presented here suffers from neuronal ceroid lipofuscinoses 2 (CLN2) (MIM# 204500) and receives intracerebroventricular enzyme replacement therapy (ICV-ERT) every 14 days. After the emergence of the coronavirus disease...

Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration C...
https://doi.org/10.1016/j.jpeds.2022.05.017
The Journal of Pediatrics; Guo R, Mentch FD et. al.

May 17th, 2022 - To evaluate Mendelian causes of neurodegenerative disorders in a cohort of pediatric patients. Patients enrolled in the Center for Applied Genomics Biobank at the Children's Hospital of Philadelphia with neurodegenerative symptoms were identified ...

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a singl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066917
Orphanet Journal of Rare Diseases; Rus CM, Weissensteiner T et. al.

May 4th, 2022 - Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between ...

Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000108
PloS One; Barry LA, Kay GW et. al.

Apr 12th, 2022 - The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are fatal, mainly childhood, inherited neurodegenerative lysosomal storage diseases. Sheep affected with a CLN6 form display progressive regionally defined glial activation and subsequent n...

Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
https://clinicaltrials.gov/ct2/show/NCT04808297

Apr 11th, 2022 - This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.

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Clinicaltrials.gov  3 results

Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
https://clinicaltrials.gov/ct2/show/NCT04808297

Apr 11th, 2022 - This study aims to collect clinical and laboratory data of patients with NCL taking Trehalose.

Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
https://clinicaltrials.gov/ct2/show/NCT04613089

Oct 29th, 2021 - NCLs (Neuronal Ceroid Lipofuscinoses) are a group of rare, inherited, neurodegenerative disorders, also known as Batten disease. Until now, 13 different genes causing different subtypes of disease are known. The genetic mutations cause a symptom c...

Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis
https://clinicaltrials.gov/ct2/show/NCT00028262

Oct 27th, 2016 - Neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten disease, represent a group of the most common (1 in 12,500) heritable neurodegenerative storage disorders of childhood. Mutations of at least 8 different genes are responsible for var...

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