BETA-GALACTOSIDASE DEFICIENCY IN YOUNG ADULTS
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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 [2]
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 [2]
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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
- Wenger, D., Goodman, S., & Myers, G.
- Affiliations
- University of Colorado Denver (US)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1974-11
- Volume
- 304
- Issue
- 7892
- Pages
- 1319-1320
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2033503625
- Cited by
- 40
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 1 · 2020: 1 · 2017: 2 · 2016: 1
- FWCI
- 5.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (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
- beta-galactosidase deficiency, young adults, lysosomal storage disease, mucopolysaccharidosis type VII, arylsulfatase B
- MeSH terms
- Adolescent, Adult, Age Factors, Female, Galactosidases, Humans, Male, Metabolism, Inborn Errors
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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.
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