Results 141 to 150 of about 4,207 (192)
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. [PDF]
, 2004 Caciotti, A +9 more
core +1 more source
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population [PDF]
, 2006 Chandler, D. +7 more
core +1 more source
Progressive dystonia as a presenting manifestation of GM1 gangliosidosis. [PDF]
Clin Park Relat Disord, 2019 Mehta S +5 more
europepmc +1 more source
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Neuroimaging findings in infantile GM1 gangliosidosis
European Journal of Paediatric Neurology, 2006GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by ...
Ilknur Erol, Fusun Alehan, Oguz Canan
exaly +3 more sources
Hyperphosphatasemia in GM1 gangliosidosis
The Journal of Pediatrics, 1992info:eu-repo/semantics ...
Denis, Robert +5 more
openaire +3 more sources
Archives of Ophthalmology, 1971
THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 GM1-gangliosidosis (also known as generalized gangliosidosis). In addition, the clinical aspects of this disease will be discussed, since it has important ocular manifestations, but has received only one brief mention in the ...
J M, Emery +3 more
openaire +2 more sources
THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 GM1-gangliosidosis (also known as generalized gangliosidosis). In addition, the clinical aspects of this disease will be discussed, since it has important ocular manifestations, but has received only one brief mention in the ...
J M, Emery +3 more
openaire +2 more sources
European Neurology, 1970
A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly nor skeletal X-ray changes. There is no ganglioside accumulation in the liver. These observations permit a clear distinction from the generalized GM1 gangliosidosis and agree with the division in 2 ...
C, Hooft +3 more
openaire +2 more sources
A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly nor skeletal X-ray changes. There is no ganglioside accumulation in the liver. These observations permit a clear distinction from the generalized GM1 gangliosidosis and agree with the division in 2 ...
C, Hooft +3 more
openaire +2 more sources