Zobrazeno 1 - 10
of 24
pro vyhledávání: '"I A, Schafer"'
Publikováno v:
Applied Radiation and Isotopes. 53:309-315
Low-level measurements of 3H have been made with the "Quantulus" liquid scintillation counter (LSC) using different scintillation cocktails together with selected types of counting vials. Comparisons were made between counters at the underground labo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81808f0b30fbc0b6fa6fce878c670b96
https://doi.org/10.1016/s0969-8043(00)00146-9
https://doi.org/10.1016/s0969-8043(00)00146-9
Publikováno v:
Journal of Lipid Research, Vol 17, Iss 2, Pp 132-138 (1976)
Normal human skin fibroblasts were grown in the presence of N-hexyl-O-glucosyl sphingosine (HGS), an inhibitor of aryl glucosidase and glucocerebrosidase. Tests of the cells with aryl glycosides showed that β-glucosidase activity in the cells was dr
Externí odkaz:
https://doaj.org/article/d564dc5befa348fc8f3a93503ba407bb
Publikováno v:
Human genetics. 114(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::feb11d2527c8147b269124f614ac326c
https://pubmed.ncbi.nlm.nih.gov/15046069
https://pubmed.ncbi.nlm.nih.gov/15046069
Publikováno v:
Neurology. 44(1)
We report a patient with delayed postanoxic demyelination who had pseudodeficiency of arylsulfatase A, reducing his enzyme activity to 10 to 30% of normal. This may have implications regarding the pathogenesis of postanoxic demyelination.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127efe7443db6d062abf7dcb8cec53ca
https://pubmed.ncbi.nlm.nih.gov/7904733
https://pubmed.ncbi.nlm.nih.gov/7904733
Autor:
E J, Smanik, A S, Tavill, G H, Jacobs, I A, Schafer, L, Farquhar, F L, Weber, J T, Mayes, J A, Schulak, M, Petrelli, G C, Zirzow
Publikováno v:
Hepatology (Baltimore, Md.). 17(1)
Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infilt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57aa7b1de24f8ca64eae8d08fc0d6229
https://pubmed.ncbi.nlm.nih.gov/8423040
https://pubmed.ncbi.nlm.nih.gov/8423040
Publikováno v:
Genetics in Medicine. 2:86
We describe the phenotypes of two male siblings with partial monosomy of chromosome 5 [46XY,del(5q34q35.3)]; maternally derived from a balanced insertion of 1 and 5 [inv. ins (1:5) (p.32; q35.3:3q34)]. Sib #1, (8 yrs.) - microcephaly, cleft lip and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31cc777a0471aa205cb02dce98ed192c
https://doi.org/10.1097/00125817-200001000-00127
https://doi.org/10.1097/00125817-200001000-00127
Autor:
S. D. Skaper, I. A. Schafer
Publikováno v:
Biochemical Genetics. 16:1135-1138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd05809c2a71ac87a524fdd68155bdc2
https://doi.org/10.1007/bf00484533
https://doi.org/10.1007/bf00484533
Publikováno v:
The Johns Hopkins medical journal. 148(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e7001dc1b6f92502e59f76edd3289e9
https://pubmed.ncbi.nlm.nih.gov/7453005
https://pubmed.ncbi.nlm.nih.gov/7453005
Publikováno v:
American journal of human genetics. 28(1)
An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e86d4c2a511d93b4654b8c8142231f65
https://pubmed.ncbi.nlm.nih.gov/174426
https://pubmed.ncbi.nlm.nih.gov/174426
Lesch-Nyhan syndrome. Repository identification Nos. GM-2290, 2291, 2292, 2338, 3115, 3116, and 3117
Autor:
J, Tischfield, I A, Schafer, L H, Dickerman, J, Trill, R A, Mulivor, A E, Greene, L L, Coriell
Publikováno v:
Cytogenetics and cell genetics. 24(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db7535a02535b9f048a0648beb838c50
https://pubmed.ncbi.nlm.nih.gov/477417
https://pubmed.ncbi.nlm.nih.gov/477417