Results 1 -
7
of
7
for
GM2 gangliosidosis
Did you mean GM2 gangliosidoses?
- GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant) is a rare inherited disorder that causes progressive brain injury. Most individuals with GM2 activator deficiency have the acute ...
- ... to as a lysosomal storage disorder or a GM2-gangliosidosis. HEXA This condition is inherited in an autosomal ... signs and symptoms of the condition. B variant GM2 gangliosidosis GM2 gangliosidosis, type 1 HexA deficiency Hexosaminidase A ...
- ... to as a lysosomal storage disorder or a GM2-gangliosidosis. Sandhoff disease is one of three conditions caused ... two conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are caused by variants in ...
- ... in people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is a rare inherited disorder ... Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...
- ... D'Azzo A, Tifft CJ. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. Pediatr Endocrinol ...
- ... Ninomiya H, Doi H. Structural basis of the GM2 gangliosidosis B variant. J Hum Genet. 2003;48(11): ...
- ... mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clin Neurol Neurosurg. 2018 Apr;167:43-53. ...