Zobrazeno 1 - 10
of 19
pro vyhledávání: '"E M, Prence"'
Publikováno v:
Clinical Chemistry. 42:232-238
A deficiency of the lysosomal enzyme arylsulfatase A (ASA) causes the lysosomal storage disorder metachromatic leukodystrophy (MLD). The diagnosis of MLD is straightforward in cases with deficient leukocyte or fibroblast ASA activity and a typical cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d36f436252ee9fb67b96356dc7d57bb2
https://doi.org/10.1093/clinchem/42.2.232
https://doi.org/10.1093/clinchem/42.2.232
Publikováno v:
Journal of Neuroscience Research. 43:365-371
Gaucher disease is the most common lysosomal glycosphingolipid storage disease; decreased activity of glucosylceramide β-glucosidase (GCase) results in the accumulation of glucocerebroside (GlcCer) in macrophage-derived cells. The most devastating t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55cbc76f3b59f79b2e3267df755f7ffe
https://doi.org/10.1002/(sici)1097-4547(19960201)43:3<365::aid-jnr11>3.0.co
https://doi.org/10.1002/(sici)1097-4547(19960201)43:3<365::aid-jnr11>3.0.co
Publikováno v:
Clinical Chemistry. 39:1811-1814
Tay-Sachs disease (TSD), an autosomal recessive neurodegenerative condition, is the result of a deficiency of beta-hexosaminidase A (hex A). Heterozygotic individuals are screened by analysis for hex A and hex B activities; the percent of hex A is th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4e7334c3e1e20044dce8702bb887f4f
https://doi.org/10.1093/clinchem/39.9.1811
https://doi.org/10.1093/clinchem/39.9.1811
Autor:
E M Prence, M R Natowicz
Publikováno v:
Clinical Chemistry. 38:501-503
alpha-Mannosidosis is a lysosomal storage disease resulting from a deficiency of lysosomal alpha-mannosidase activity. Diagnosis of alpha-mannosidosis has traditionally been accomplished by demonstrating reduced alpha-mannosidase activity in leukocyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0af412829c9b6ab6a312e9fea9f5ba3
https://doi.org/10.1093/clinchem/38.4.501
https://doi.org/10.1093/clinchem/38.4.501
Publikováno v:
American journal of medical genetics. 65(4)
Tay-Sachs disease (TSD) is a neurodegenerative genetic disorder caused by a deficiency of beta-hexosaminidase A (Hex A) activity. To diagnose TSD and to screen for TSD heterozygosity, laboratories use an assay that exploits the differential thermolab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bbba2c3e12a4a3029ed01e858661a98e
https://pubmed.ncbi.nlm.nih.gov/8923943
https://pubmed.ncbi.nlm.nih.gov/8923943
Publikováno v:
Journal of medical genetics. 33(10)
We performed a genetic epidemiological analysis of American non-Jewish people with ancestry from Ireland or Great Britain with regard to heterozgosity for Tay-Sachs disease (TSD). This study was prompted by a recent report that the frequency of heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857ab9a2035eedcb38fc68940a193957
https://pubmed.ncbi.nlm.nih.gov/8933335
https://pubmed.ncbi.nlm.nih.gov/8933335
Publikováno v:
Journal of neuroscience research. 43(3)
Gaucher disease is the most common lysosomal glycosphingolipid storage disease; decreased activity of glucosylceramide beta-glucosidase (GCase) results in the accumulation of glucocerebroside (GlcCer) in macrophage-derived cells. The most devastating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::59407036a4ba7de72c12d7931f195365
https://pubmed.ncbi.nlm.nih.gov/8714525
https://pubmed.ncbi.nlm.nih.gov/8714525
Publikováno v:
Clinical chemistry. 42(2)
A deficiency of the lysosomal enzyme arylsulfatase A (ASA) causes the lysosomal storage disorder metachromatic leukodystrophy (MLD). The diagnosis of MLD is straightforward in cases with deficient leukocyte or fibroblast ASA activity and a typical cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::21a69b789f83f98324814339981ad898
https://pubmed.ncbi.nlm.nih.gov/8595716
https://pubmed.ncbi.nlm.nih.gov/8595716
Autor:
E M Prence
Publikováno v:
The Biochemical journal. 310
Glucosylceramide beta-glucosidase is a membrane-bound lysosomal hydrolase that is activated by acidic lipids, the most effective of which is phosphatidylserine (PtdSer), and an activator protein, saposin C. This report documents effects of Ca2+ ions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d98009f3da3cd655a4ecce5c3928d2
https://pubmed.ncbi.nlm.nih.gov/7654196
https://pubmed.ncbi.nlm.nih.gov/7654196
Publikováno v:
American journal of human genetics. 56(4)
Tay-Sachs disease (TSD) results from mutations in HEXA that cause Hex A deficiency. Heterozygote-screening programs have been applied in groups with an increased TSD incidence, such as Ashkenazi Jews and French Canadians in Quebec. These programs are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::11a44026ae8cc9fc83267b939afd0bcc
https://pubmed.ncbi.nlm.nih.gov/7717398
https://pubmed.ncbi.nlm.nih.gov/7717398