CLN10 disease: MedlinePlus Genetics
WEBCLN10 disease is a severe disorder that primarily affects the nervous system. Explore symptoms, inheritance, genetics of this condition.
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CLN10 disease - About the Disease - Genetic and Rare Diseases ...
WEBNeuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs …
Current and Emerging Treatment Strategies for Neuronal Ceroid ...
WEBMar 15, 2019 · Forms of NCL caused by dysfunctions of lysosomal enzymes (i.e., PPT1 in CLN1, TPP1 in CLN2, and cathepsin D in CLN10 disease) can be diagnosed using …
- Author: Alfried Kohlschütter, Angela Schulz, Udo Bartsch, Stephan Storch
- Publish Year: 2019
Neuronal ceroid lipofuscinosis 10 - National Organization for Rare ...
WEBNeuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs …
Orphanet: Congenital neuronal ceroid lipofuscinosis
WEBCNCL is transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. …
CLN10 | The Neuronal Ceroid Lipofuscinoses (Batten Disease)
WEBThis chapter covers the molecular genetics of the CLN10 gene, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and …
Emerging new roles of the lysosome and neuronal ceroid …
WEBJan 16, 2019 · Several animal models with inactivating mutations in the CLN10/CTSD gene manifest CNCL phenotype. Targeted-disruption of the Cln10/Ctsd gene has been …
Neuronal ceroid lipofuscinosis 10 (Concept Id: C1864669)
WEBCeroid lipofuscinosis neuronal Cathepsin D-deficient; CLN10; CLN10 Disease; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis due to …
Neuronal ceroid lipofuscinosis 10 - NIH Genetic Testing Registry …
WEBNeuronal ceroid lipofuscinosis 10. Synonyms. CLN10 Disease; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Ceroid lipofuscinosis neuronal Cathepsin D-deficient; Neuronal …
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease ...
WEBApr 12, 2016 · Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. Letter to the Editors. Published: 12 April 2016. Volume …
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