Matches in SemOpenAlex for { <https://semopenalex.org/work/W2028249478> ?p ?o ?g. }
Showing items 1 to 54 of
54
with 100 items per page.
- W2028249478 endingPage "54" @default.
- W2028249478 startingPage "54" @default.
- W2028249478 abstract "Clinical descriptions of a spate of hereditary neurological conditions, including Tay-Sachs disease, Gaucher disease, Fabry disease, and Niemann-Pick disease, appeared in the late 19th and early 20th centuries. The accumulating toxic sphingolipids in Gaucher disease and Niemann-Pick disease were identified in the 1930s and those in Tay-Sachs disease and Fabry disease in early 1960s. Specific enzymatic abnormalities were elucidated in each of these conditions between 1965 and 1969. 1-6 Diagnostic tests based on assaying the respective enzymes were developed using white blood cells, cultured skin fibroblasts, and serum. These assays also provided for the identification of the majority of the carriers of these disorders. Prenatal detection of each of these conditions was established in the early 1970s. 7-9 Genetic counseling for Tay-Sachs disease has reduced the number of cases by approximately 90%. Soon after the metabolic defects were elucidated in Gaucher disease and Niemann-Pick disease, consideration was given to enzyme replacement therapy. 10 In the early 1970s, single infusions of several of the required enzymes revealed reductions of the accumulating lipids in the blood and in the liver. 11-13 No clinical improvement was apparent, and none of these enzymes reached the brain. In the late 1980s, large quantities of purified glucocerebrosidase, the enzyme that is lacking in Gaucher disease, became available. By modifying the glycoform of this enzyme, it was effectively targeted to lipidstoring macrophages. Enzyme replacement with this preparation has brought great benefit to thousands of patients with type 1 Gaucher disease 14 and some help to patients with type 3 (chronic neuronopathic) Gaucher disease. 15 The central nervous system manifestations in patients with type 2 (acute neuronopathic) Gaucher disease have not responded to intravenously administered glucocerebrosidase. Therefore, my colleagues and I 16 developed a technique for the intracerebral administration of this enzyme. If this strategy proves effective, it will be explored in a number of hereditary disorders that involve the central nervous system. Reliable methods will appear in the 21st century to deliver therapeutic enzymes to the central and peripheral nervous systems. Many hereditary neurological disorders will be treated effectively. The effectiveness in gene and neuronal stem cell therapy trials that were initiated in the late 1990s will be greatly improved. One can confidently anticipate that complete cures for many neurogenetic disorders will be developed in the next century." @default.
- W2028249478 created "2016-06-24" @default.
- W2028249478 creator A5064650178 @default.
- W2028249478 date "2000-01-01" @default.
- W2028249478 modified "2023-10-17" @default.
- W2028249478 title "Neurogene Therapy for the 21st Century" @default.
- W2028249478 cites W193961159 @default.
- W2028249478 cites W1980723388 @default.
- W2028249478 cites W2000551367 @default.
- W2028249478 cites W2001910743 @default.
- W2028249478 cites W2026507072 @default.
- W2028249478 cites W2035629109 @default.
- W2028249478 cites W2040386863 @default.
- W2028249478 cites W2084255093 @default.
- W2028249478 cites W2087510544 @default.
- W2028249478 cites W2124663723 @default.
- W2028249478 cites W2322128806 @default.
- W2028249478 cites W2338493443 @default.
- W2028249478 cites W2417467357 @default.
- W2028249478 cites W2967058714 @default.
- W2028249478 doi "https://doi.org/10.1001/archneur.57.1.54" @default.
- W2028249478 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10634437" @default.
- W2028249478 hasPublicationYear "2000" @default.
- W2028249478 type Work @default.
- W2028249478 sameAs 2028249478 @default.
- W2028249478 citedByCount "0" @default.
- W2028249478 crossrefType "journal-article" @default.
- W2028249478 hasAuthorship W2028249478A5064650178 @default.
- W2028249478 hasConcept C15744967 @default.
- W2028249478 hasConcept C71924100 @default.
- W2028249478 hasConceptScore W2028249478C15744967 @default.
- W2028249478 hasConceptScore W2028249478C71924100 @default.
- W2028249478 hasIssue "1" @default.
- W2028249478 hasLocation W20282494781 @default.
- W2028249478 hasLocation W20282494782 @default.
- W2028249478 hasOpenAccess W2028249478 @default.
- W2028249478 hasPrimaryLocation W20282494781 @default.
- W2028249478 hasRelatedWork W1506200166 @default.
- W2028249478 hasRelatedWork W1995515455 @default.
- W2028249478 hasRelatedWork W2048182022 @default.
- W2028249478 hasRelatedWork W2080531066 @default.
- W2028249478 hasRelatedWork W2604872355 @default.
- W2028249478 hasRelatedWork W2748952813 @default.
- W2028249478 hasRelatedWork W2899084033 @default.
- W2028249478 hasRelatedWork W3031052312 @default.
- W2028249478 hasRelatedWork W3032375762 @default.
- W2028249478 hasRelatedWork W3108674512 @default.
- W2028249478 hasVolume "57" @default.
- W2028249478 isParatext "false" @default.
- W2028249478 isRetracted "false" @default.
- W2028249478 magId "2028249478" @default.
- W2028249478 workType "article" @default.