Results 141 to 150 of about 3,943 (193)

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G_M1-gangliosidosis. [PDF]

Sci Rep
Jubran L, Wannemacher R, Ulianytska A, Gerhauser I, Baumgärtner W, Leitzen E.   +5 more
europepmc   +1 more source

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev
Quadrini KJ, Vrentas C, Duke C, Wilson C, Hinderer CJ, Weinstein DA, Al-Zaidy SA, Browne SE, Wilson JM, Ni YG.   +9 more
europepmc   +1 more source

GM1 gangliosidosis type 3 [PDF]

, 2020
openaire   +1 more source

Progressive dystonia as a presenting manifestation of GM1 gangliosidosis. [PDF]

Clin Park Relat Disord, 2019
Mehta S, Kapila AT, Ray S, Prabhat N, Chakravarty K, Lal V.   +5 more
europepmc   +1 more source

GM1 gangliosidosis type 1 [PDF]

, 2020
openaire   +1 more source

GM1 gangliosidosis type I.

Indian pediatrics, 1990
N, Sathy, K M, Krishnamoorthy, A, Ravikumar   +2 more
openaire   +1 more source

GM1 gangliosidosis, type II.

Indian pediatrics, 1982
Z M, Patel, S S, Iyer, L M, Ambani, R H, Suchak, R P, Aggarwal   +4 more
openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Neuroimaging findings in infantile GM1 gangliosidosis

European Journal of Paediatric Neurology, 2006
GM1 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, 1992
info:eu-repo/semantics ...
Denis, Robert, Wayemberg, Jean-Louis, Vermeulen, Martine, Gorus, Frans, Liebaers, Ingeborg, Vamos, Eszter   +5 more
openaire   +3 more sources

GM1-Gangliosidosis

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, W R, Green, R G, Wyllie, R R, Howell   +3 more
openaire   +2 more sources