Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.
Ramadan
H
H
Neurology Department, Mid Yorkshire NHS Trust, Wakefield, Yorkshire, UK.
Al-Din
A S
AS
Ismail
A
A
Balen
F
F
Varma
A
A
Twomey
A
A
Watts
R
R
Jackson
M
M
Anderson
G
G
Green
E
E
Mole
S E
SE
D000328:Adult; D001714:Bipolar Disorder / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics*; D013869:Thiolester Hydrolases
D008565:Membrane Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human