Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

2007 ◽  
Vol 90 (1) ◽  
pp. 77-80 ◽  
Author(s):  
Clare E. Beesley ◽  
Daniela Concolino ◽  
Mirella Filocamo ◽  
Bryan G. Winchester ◽  
Pietro Strisciuglio
Keyword(s):  
Nonsense Mutation ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type D

scholarly journals Sanfilippo syndrome type D in two adolescent sisters.

1991 ◽  
Vol 28 (6) ◽  
pp. 402-405 ◽  
Author(s):  
L Siciliano ◽  
A Fiumara ◽  
L Pavone ◽  
C Freeman ◽  
D Robertson ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type D

scholarly journals Sanfilippo Syndrome Type D

2007 ◽  
Vol 64 (11) ◽  
pp. 1629 ◽  
Author(s):  
An C. M. Jansen ◽  
Henian Cao ◽  
Paige Kaplan ◽  
Kenneth Silver ◽  
Gabriel Leonard ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type D

Sanfilippo syndrome type D

1987 ◽  
Vol 110 (2) ◽  
pp. 267-271 ◽  
Author(s):  
Paige Kaplan ◽  
Leonhard S. Wolfe
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type D

Sanfilippo syndrome type C: A clinicopathological autopsy study of a long-term survivor

1996 ◽  
Vol 14 (4) ◽  
pp. 317-321 ◽  
Author(s):  
Mana Kurihara ◽  
Komei Kumagai ◽  
Saburo Yagishita
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Autopsy Study ◽  
Type C ◽  
Term Survivor

Mucopolysaccharidosis IIIB (Sanfilippo syndrome type B) masquerading as a behavioral disorder

2013 ◽  
Vol 108 (2) ◽  
pp. S26
Author(s):  
Jacqueline Brady ◽  
Aditi Trehan ◽  
Rena Godfrey ◽  
Cynthia Tifft ◽  
Cornelius Boerkoel ◽  
...  
Keyword(s):  
Behavioral Disorder ◽  
Syndrome Type ◽  
Type B ◽  
Sanfilippo Syndrome
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