Page last updated: 2024-10-16

adenine and Gangliosidosis, GM1

adenine has been researched along with Gangliosidosis, GM1 in 1 studies

Gangliosidosis, GM1: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Takamura, A1
Higaki, K1
Kajimaki, K1
Otsuka, S1
Ninomiya, H1
Matsuda, J1
Ohno, K1
Suzuki, Y1
Nanba, E1

Other Studies

1 other study available for adenine and Gangliosidosis, GM1

ArticleYear
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis.
    Biochemical and biophysical research communications, 2008, Mar-14, Volume: 367, Issue:3

    Topics: Adenine; Adenosine Triphosphate; Animals; Apoptosis Regulatory Proteins; Astrocytes; Autophagy; Becl

2008