Results 151 to 160 of about 7,809 (216)

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis. [PDF]

Anal Bioanal Chem
Kim J, Byeon SK, Oglesbee D, Schultz MJ, Matern D, Pandey A.   +5 more
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

Long-standing macular cherry red spot - A case series and review of literature.

Oman J Ophthalmol
Agarwal D, Temkar S, Shah A, Deb AK, Ramachandar H, Sahi AA.   +5 more
europepmc   +1 more source

Genetics and Therapies for GM2 Gangliosidosis [PDF]

Current Gene Therapy, 2018
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of ...
Maria Begona Cachon-Gonzalez, Timothy M Cox   +1 more
exaly   +3 more sources

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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

GM1 Gangliosidosis

1989
GM1 gangliosidosis is an autosomal recessive disorder of GM1 metabolism, resulting in variable neural and visceral accumulation. Two forms can be distinguished: generalized or type 1 GM1 gangliosidosis and cerebral or type 2 GM1 gangliosidosis.
Marjo S. van der Knaap, Jacob Valk
openaire   +1 more source

Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis)

Zeitschrift f�r Kinderheilkunde, 1975
Pathological, histochemical and ultrastructural studies on 3 siblings with GM1 gangliosidosis type II are reported. These studies support a biochemical defect with profound deficiency of beta-galactosidases which results in widespread accumulation of the GM1 ganglioside and its asialo derivative in brain and to a lesser extent in viscera, as well as in
E F, Gilbert, J, Varakis, J M, Opitz, G M, ZuRhein, R, Ware, C, Viseskul, E G, Kaveggia, H A, Hartmann   +7 more
openaire   +2 more sources

Ovine GM1 gangliosidosis

Small Ruminant Research, 1991
Abstract Ovine GM1 gangliosidosis is a newly described neuronal lysosomal storage disease first observed in Suffolk sheep. Affected sheep are clinically normal at birth and exhibit ataxia at 4 to 6 months of age which rapidly progresses to prostration.
D J, Prieur, A J, Ahern-Rindell, R D, Murnane   +2 more
openaire   +2 more sources

GM1 gangliosidosis in a cat

Journal of Comparative Pathology, 1972
Abstract A case of GM 1 gangliosidosis in a 3-month-old cat is described. The clinical, chemical and histopathological features closely resemble those seen in this condition in man. There is an increase in GM 1 ganglioside and ceramide tetrahexoside in the brain and liver.
openaire   +2 more sources