AN INFANTILE FORM OF NEURONAL “STORAGE” DISEASE WITH CHARACTERISTIC EVOLUTION OF NEUROPHYSIOLOGICAL FEATURES

Brain ◽  
1974 ◽  
Vol 97 (1) ◽  
pp. 355-360 ◽  
Author(s):  
G. PAMPIGLIONE ◽  
ANN HARDEN
Keyword(s):  
Storage Disease ◽  
Infantile Form ◽  
Characteristic Evolution ◽  
Neuronal Storage Disease

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

scholarly journals Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

1998 ◽  
Vol 21 (4) ◽  
pp. 443-446
Author(s):  
Cláudia Maria Carvalho dos Santos ◽  
Patrícia Santana Correia ◽  
Antônio Abílio Santa Rosa ◽  
Elde Vaniazzi ◽  
Janice Carneiro Coelho ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Storage Disease ◽  
Screening Program ◽  
Lysosomal Storage ◽  
Infantile Form ◽  
Inborn Errors ◽  
First Case ◽  
Female Baby ◽  
Layer Chromatography ◽  
Urinary Oligosaccharides

We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.

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
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