Inborn Errors of Mucopolysaccharide Metabolism: Faulty degradative mechanisms are implicated in this group of human diseases.
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- Authors
- Neufeld, E. F., & Fratantoni, J. C.
- Venue
- Science
- Published
- 1970-07-10
- Volume
- 169
- Issue
- 3941
- Pages
- 141-146
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1670697904
- Cited by
- 215
- References
- 47
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 2 · 2020: 3 · 2019: 4 · 2018: 4 · 2017: 8 · 2016: 3 · 2014: 7 · 2013: 6 · 2012: 2
- FWCI
- 30.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Keywords
- inborn errors of metabolism, mucopolysaccharidosis, glycosaminoglycans, lysosomal storage disease, lysosomal enzymes, glycosaminoglycan metabolism
- MeSH terms
- Carbohydrate Metabolism, Inborn Errors, Chondroitin, Fibroblasts, Galactosidases, Genes, Recessive, Glycosaminoglycans, Humans, Liver, Lysosomes, Intellectual Disability, Molecular Biology, Mucopolysaccharidoses, Mucoproteins, Retinitis Pigmentosa, Sex Chromosome Aberrations, Sulfates, Sulfur Isotopes, Culture Techniques
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