Zobrazeno 1 - 10
of 109
pro vyhledávání: '"M R, Natowicz"'
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:
European Journal of Pediatrics. 156:661-663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf86c433639dbcc5105383beb2b9b84
https://doi.org/10.1007/s004310050687
https://doi.org/10.1007/s004310050687
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:
Methods in enzymology. 311
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::231e4142d58fcc8afb2625e7117b660d
https://pubmed.ncbi.nlm.nih.gov/10563314
https://pubmed.ncbi.nlm.nih.gov/10563314
Autor:
B E Shapiro, M R Natowicz
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 80:94-95
Late-onset Tay–Sachs disease (LOTS) is a rare lysosomal storage disorder caused by deficient beta-hexosaminidase A (HEXA) activity. Toxicity results from the accumulation of gangliosides in the central nervous system. In juvenile-onset forms, patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4035f8032a6ab3ec27ffaaf5985fc22
https://doi.org/10.1136/jnnp.2008.147645
https://doi.org/10.1136/jnnp.2008.147645
OBJECTIVES: State newborn-screening programs collectively administer the largest genetic-testing initiative in the United States. We sought to assess public involvement in formulating and implementing medical policy in this important area of genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa3145e8a5da741eebd02c52a3b7cfd
https://europepmc.org/articles/PMC1381087/
https://europepmc.org/articles/PMC1381087/
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
Autor:
M R, Natowicz, Y, Wang
Publikováno v:
American journal of medical genetics. 65(3)
A nearly pathognomonic finding of the lysosomal storage disorders mucolipidoses II and III is the marked increase of plasma lysosomal enzyme activities. The genetic lesion in ML II and III causes defective function of the enzyme UDP-GlcNAc:lysosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::093016eb2f1949abab96db96c9cbfbb4
https://pubmed.ncbi.nlm.nih.gov/9240745
https://pubmed.ncbi.nlm.nih.gov/9240745
Publikováno v:
American journal of medical genetics. 63(2)
The biosynthesis of normal bile acids involves beta-oxidation of the 8-carbon side-chain of cholesterol, in addition to numerous modifications of the sterol nucleus. Because beta-oxidation of the sterol side-chain has been localized to the peroxisome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9baf42a0344367ddc0a1cf7500d11567
https://pubmed.ncbi.nlm.nih.gov/8725785
https://pubmed.ncbi.nlm.nih.gov/8725785
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