juvenile neuronal ceroid lipofuscinosis
Gwedd
extremely rare and fatal autosomal recessive neurodegenerative disorder in humans
enghraifft o'r canlynol
clefyd prin
dosbarth o glefyd
isddosbarth o'r canlynol
neuronal ceroid lipofuscinosis[2]
enwyd ar ôl
Frederick Batten
arbenigedd meddygol
endocrinoleg
ar restr sylw'r prosiect Wikimedia
dynodwr ICPC 2
T99
cysyniad o'r un fath
categori Comin
Batten disease
Cyfeiriadau
- ↑ Freebase Data Dumps, 28 Hydref 2013
- ↑ 2.0 2.1 2.2 2.3 Monarch Disease Ontology release 2018-06-29, 3 Gorffennaf 2018, MONDO_0019262
- ↑ YSO-Wikidata mapping project, 2 Chwefror 2022
- ↑ OpenAlex, 26 Ionawr 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
- ↑ Cathepsin D deficiency is associated with a human neurodegenerative disorder
- ↑ Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
- ↑ Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium
- ↑ Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
- ↑ Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis