juvenile neuronal ceroid lipofuscinosis
Ilme
extremely rare and fatal autosomal recessive neurodegenerative disorder in humans
üksikjuht nähtusest
rare disease
class of disease
mille alamklass
neuronal ceroid lipofuscinosis[2]
nimetatud ... järgi
Frederick Batten
meditsiiniline eriala
Wikimedia projekti fookusnimekiri
ICPC 2 ID
T99
täpne vaste
Commonsi kategooria
Batten disease
Viited
- ↑ Freebase Data Dumps, 28. oktoober 2013
- ↑ 2,0 2,1 2,2 2,3 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0019262
- ↑ YSO-Wikidata mapping project, 2. veebruar 2022
- ↑ OpenAlex, 26. jaanuar 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