Zobrazeno 1 - 10
of 15
pro vyhledávání: '"G T, Besley"'
Autor:
Z, Zhang, Y, Suzuki, N, Shimozawa, S, Fukuda, A, Imamura, T, Tsukamoto, T, Osumi, Y, Fujiki, T, Orii, R J, Wanders, P G, Barth, H W, Moser, B C, Paton, G T, Besley, N, Kondo
Publikováno v:
Human mutation. 13(6)
The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belongin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::42c47169426c0c95d5f12f026ef4deac
https://pubmed.ncbi.nlm.nih.gov/10408779
https://pubmed.ncbi.nlm.nih.gov/10408779
Publikováno v:
The Turkish journal of pediatrics. 38(1)
Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of alpha-galactosidase and beta-neurominidase. In this report, two siblings with galactosialidosis, resembling Niemann-Pick disease with the presence of foamy cells in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::45d6543718c21d465f7c3ec7db172796
https://pubmed.ncbi.nlm.nih.gov/8819626
https://pubmed.ncbi.nlm.nih.gov/8819626
Publikováno v:
Journal of Inherited Metabolic Disease. 14:405-406
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d376458a0c80e722ef18893c5af1d157
https://doi.org/10.1007/bf01797912
https://doi.org/10.1007/bf01797912
Publikováno v:
Journal of Clinical Pathology. 36:1000-1004
Lysosomal enzyme activities were studied in cells derived from the following types of leukaemia: chronic myeloid, acute myeloid, acute myelomonocytic, acute monocytic, non-T, non-B cell acute lymphoblastic, T-cell acute lymphoblastic, B-cell chronic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc7dc47c6d0ab2b64588530a365acf0
https://doi.org/10.1136/jcp.36.9.1000
https://doi.org/10.1136/jcp.36.9.1000
Autor:
A D Bain, G T Besley
Publikováno v:
Journal of Medical Genetics. 13:195-199
Galactosylceramide beta-galactosidase (cerebrosidase) and nonspecific beta-galactosidase activities were measured in both cultured skin fibroblasts and leucocytes from a family with Krabbe's globoid cell leucodystrophy (GLD). The activities of these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af46db7ed7ad43942f587c3bcfbe051
https://doi.org/10.1136/jmg.13.3.195
https://doi.org/10.1136/jmg.13.3.195
Publikováno v:
Steroids and lipids research. 5(5-6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cbd60012a1243e97046a119f035c3f41
https://pubmed.ncbi.nlm.nih.gov/4376626
https://pubmed.ncbi.nlm.nih.gov/4376626
Publikováno v:
Journal of inherited metabolic disease. 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd2907366098efdbb6343ff285db700d
https://pubmed.ncbi.nlm.nih.gov/6434876
https://pubmed.ncbi.nlm.nih.gov/6434876
Publikováno v:
Journal of clinical pathology. 32(11)
A patient with Niemann-Pick disease is reported together with family studies. Her liver and bone marrow were shown to be infiltrated with sea blue histiocytes. Other organs, spleen and lung, were presumably also involved but histological proof was no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50ecb731123757331a88b5053b5e253
https://pubmed.ncbi.nlm.nih.gov/315965
https://pubmed.ncbi.nlm.nih.gov/315965
Autor:
G T, Besley
Publikováno v:
Biochemical Society transactions. 3(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4181d189df122958ab8f08a87beeae70
https://pubmed.ncbi.nlm.nih.gov/1132549
https://pubmed.ncbi.nlm.nih.gov/1132549
Publikováno v:
Journal of clinical pathology. 40(1)
Quantitative and qualitative abnormalities in marrow lysosomal enzymes, suggestive of acute myeloid leukaemia, were detected in a patient with Sweet9s disease and monocytosis 12 months before she presented with acute myelomonocytic leukaemia. Biochem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1b2b219c2f499fdbd74da1cf645de99
https://pubmed.ncbi.nlm.nih.gov/3469219
https://pubmed.ncbi.nlm.nih.gov/3469219