Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1978 1
1981 1
1982 1
1986 1
1987 2
1991 1
1994 1
1996 2
1999 1
2004 1
2005 1
2008 1
2012 1
2013 2
2014 1
2018 3
2020 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Results by year

Filters applied: . Clear all
Page 1
Gangliosidoses.
Patterson MC. Patterson MC. Handb Clin Neurol. 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. Handb Clin Neurol. 2013. PMID: 23622392 Review.
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1 and …
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the ne …
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL. King JE, et al. J Genet Couns. 2014 Oct;23(5):734-41. doi: 10.1007/s10897-014-9720-9. Epub 2014 Apr 30. J Genet Couns. 2014. PMID: 24777551 Review.
A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing identified an isolated deficiency of beta-galactosidase. Subsequently, homozygous missense mutations in the galactosidase, …
A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing identified …
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, Liu L. Feng Y, et al. Metab Brain Dis. 2018 Dec;33(6):2051-2057. doi: 10.1007/s11011-018-0315-2. Epub 2018 Sep 28. Metab Brain Dis. 2018. PMID: 30267299
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of beta-galactosidase activity, precisely due to mutations in the GLB1 gene. ...
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of beta-galactosidas …
Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
Su P, Khaledi H, Waggoner C, Gelb MH. Su P, et al. J Inherit Metab Dis. 2021 Jan;44(1):264-271. doi: 10.1002/jimd.12269. Epub 2020 Aug 26. J Inherit Metab Dis. 2021. PMID: 32506457
GM1-gangliosidosis is a rare autosomal recessive lysosomal storage disease caused by deficiency of beta-galactosidase (GLB1). Newborn screening (NBS) may be warranted in the near future given the initiation of a number of gene therapy clinical trials. …
GM1-gangliosidosis is a rare autosomal recessive lysosomal storage disease caused by deficiency of beta-galactosidas …
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. Lee JS, et al. Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10. Brain Dev. 2018. PMID: 29439846
METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of beta-galactosidase activity. We identified the first two cases by whole-exome sequencing, and then the other six cases by direct sequencing of GLB1 …
METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of beta-galact …
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
Muthane U, Chickabasaviah Y, Kaneski C, Shankar SK, Narayanappa G, Christopher R, Govindappa SS. Muthane U, et al. Mov Disord. 2004 Nov;19(11):1334-41. doi: 10.1002/mds.20193. Mov Disord. 2004. PMID: 15389993 Review.
Magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density images. Diagnosis is confirmed by demonstrating deficiency of beta-galactosidase. Adult (Type 3) GM1 Gangliosid …
Magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density …
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis.
Ong MT, Chow GC, Morton RE. Ong MT, et al. Pediatr Neurol. 2012 Mar;46(3):178-81. doi: 10.1016/j.pediatrneurol.2011.12.005. Pediatr Neurol. 2012. PMID: 22353294
At age 15 months, she was hospitalized for aspiration pneumonia and seizures, and also manifested hepatosplenomegaly. White cell enzymes revealed a marked deficiency of beta-galactosidase activity (4 mumol/g/hour) in white cells and an elevated chitotr …
At age 15 months, she was hospitalized for aspiration pneumonia and seizures, and also manifested hepatosplenomegaly. White cell enzymes rev …
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A. Kleijer WJ, et al. Pediatr Res. 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. Pediatr Res. 1996. PMID: 8725271
Deficiency of lysosomal protective protein/cathepsin A in humans is the primary cause of galactosialidosis, a lysosomal storage disease characterized by combined deficiency of beta-galactosidase and neuraminidase. We have investigated 20 galactosialido …
Deficiency of lysosomal protective protein/cathepsin A in humans is the primary cause of galactosialidosis, a lysosomal storage disease char …
Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.
Fricker H, O'Brien JS, Vassella F, Gugler E, Mühlethaler JP, Spycher M, Wiesmann UN, Herschkowitz N. Fricker H, et al. J Neurol. 1976 Oct 4;213(4):273-81. doi: 10.1007/BF00316267. J Neurol. 1976. PMID: 62026
A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized gangliosidosis due to deficiency of beta-galactosidase was also based on the absence of the enzyme activity from culture …
A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized ganglios …
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A. Georgiou T, et al. Genet Test. 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. Genet Test. 2005. PMID: 15943552
GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to death before the age of 4. ...
GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly char …
23 results