abbreviated lysosomal Flashcards
1
Q
types of lysosomal storage diseases
A
glycoproteinoses oligosaccharidoses/glycogenoses mucolipidosis sphingolipidoses neuronal ceroid lipofucinoses "batten's disease"
2
Q
CLN signs
A
visual defecits, cerebellar ataxia, cognitive impairment, myoclonus, seizures
3
Q
mucopolysacchridose
A
growth retardation, facial deformity, retinal degneration/corenal
4
Q
sphingolipidoses
A
cerebellar ataxia
5
Q
mucolipidosis
A
facial dysmoprhism, dullness, retinal, ataxia
6
Q
oligosaccharidoses/glycogensoes
A
weakness, seizures, stupor, organomegaly, rhabdo
7
Q
glycoproteinoses
A
cerebellar ataxia, myoclonic epilepsy in lafora disease
8
Q
CLN1
A
mini dasch
9
Q
CLN2
A
long haired daschund
10
Q
CLN5
A
border collie, golden
11
Q
cln
A
aussie
12
Q
cln7
A
Chinese creseted
13
Q
cln 8
A
English setter, aussie
14
Q
cln 10
A
american bulldog
15
Q
cln12
A
tibetan terrier
