Adult type neuronal storage disease with neuraminidase deficiency

1979 ◽  
Vol 6 (3) ◽  
pp. 232-244 ◽  
Author(s):  
Tadashi Miyatake ◽  
Tetsushi Atsumi ◽  
Taminori Obayashi ◽  
Yoshikuni Mizuno ◽  
Susumu Ando ◽  
...  
Keyword(s):  
Storage Disease ◽  
Adult Type ◽  
Neuronal Storage Disease

Electron Microscopic Findings in Skin Biopsies from Patients with Infantile Osteopetrosis and Neuronal Storage Disease

2007 ◽  
Vol 31 (5) ◽  
pp. 333-338 ◽  
Author(s):  
Joseph Alroy ◽  
Rolf Pfannl ◽  
Angelo Ucci ◽  
Gérard Lefranc ◽  
Annalisa Frattini ◽  
...  
Keyword(s):  
Storage Disease ◽  
Electron Microscopic ◽  
Skin Biopsies ◽  
Microscopic Findings ◽  
Neuronal Storage Disease

Neuronal storage disease in English springer spaniels

1983 ◽  
Vol 112 (4) ◽  
pp. 86-87 ◽  
Author(s):  
J. Littlewood ◽  
M. Herrtage ◽  
A. Palmer
Keyword(s):  
Storage Disease ◽  
Neuronal Storage Disease

Oligosaccharidoses

2012 ◽  
pp. 605-630 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Adult Type ◽  
Gm1 Gangliosidosis ◽  
Radiographic Features ◽  
Multiple Sulfatase Deficiency ◽  
Juvenile Type ◽  
Sialic Acid Storage Disease

Chapter 134 covers oligosaccharidoses (GM1 gangliosidosis, infantile/juvenile type (MIM 230500, 230605), GM1 gangliosidosis, adult type (MIM 230650) sialidosis/galactosialidosis (MIM 256550, 256540), alpha-mannosidosis (MIM 248500), fucosidosis (MIM 230000), aspartylglucosaminuria (MIM 208400), sialic acid storage disease (MIM 604369), multiple sulfatase deficiency (MIM 272200)), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Neuronal Storage Disease in a Group of Captive Humboldt Penguins (Spheniscus humboldti)

2006 ◽  
Vol 43 (6) ◽  
pp. 1029-1033 ◽  
Author(s):  
A. Wünschmann ◽  
A. Armien ◽  
R. Wallace ◽  
M. Wictor ◽  
M. Oglesbee
Keyword(s):  
Storage Disease ◽  
Neuronal Storage Disease

The association of infantile osteopetrosis and neuronal storage disease in two brothers

1988 ◽  
Vol 75 (3) ◽  
pp. 233-240 ◽  
Author(s):  
V. Jagadha ◽  
W. C. Halliday ◽  
L. E. Becker ◽  
D. Hinton
Keyword(s):  
Storage Disease ◽  
Neuronal Storage Disease
Sign in / Sign up

Export Citation Format

Share Document