Late infantile systemic lipidosis Major monosialogangliosidosis Delineation of two types
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Galactosialidosis was first classified as a variant of GM1-gangliosidosis, a glycosphingolipid storage disease due to an isolated deficiency of lysosomal β-GAL.
“Galactosialidosis (GS) was first classified as a variant of GM1-gangliosidosis, a glycosphingolipid storage disease due to an isolated deficiency of the lysosomal β-GAL 1,2.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [1]
The high residual β-GAL activity measured in GS fibroblasts (~15-20% of control values) could not account for the severe, early onset presentation of symptoms in patients.
“However, the high residual β-GAL activity measured in GS fibroblasts (~15–20% of control values) could not account for the severe, early onset presentation of the symptoms in patients.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [1]
Cited by
Sorted by citations
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1266933 · Cited by 50 · see citing works
- Authors
- Derry, D. M., Fawcett, J. S., Andermann, F., & Wolfe, L. S.
- Affiliations
- Montreal Neurological Institute and Hospital (CA)
- Departments of Neurology and Neurosurgery and Pathology, McGill University, Montreal Children's Hospital, and Montreal Neurological Institute, Canada
- Venue
- Neurology
- Published
- 1968-04
- Volume
- 18
- Issue
- 4
- Pages
- 340-340
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2312822887
- Cited by
- 119
- References
- 0
- Citations by year
- 2021: 1 · 2020: 2 · 2016: 2 · 2014: 2
- FWCI
- 14.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- GM2 gangliosidosis, GM2 ganglioside, lysosomal storage disease, ganglioside metabolism, disease subtypes
- MeSH terms
- Bone Marrow, Brain, Brain Chemistry, Cerebral Cortex, Child, Preschool, Chromatography, Thin Layer, Consanguinity, Gangliosides, Glycolipids, Histocytochemistry, Humans, Infant, Kidney, Lipidoses, Liver, Male, Neurologic Manifestations, Neurons, Spleen, Staining and Labeling
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
