Zobrazeno 1 - 10
of 16
pro vyhledávání: '"D C, Riddell"'
Publikováno v:
Clinical Chemistry. 40:2099-2103
We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency. Karyotyping showed a deletion on the short arm of the X chromosome (p21.1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e212ae8760a25e419f9132275ada296
https://doi.org/10.1093/clinchem/40.11.2099
https://doi.org/10.1093/clinchem/40.11.2099
Publikováno v:
British Journal of Ophthalmology. 78:719-722
Fifteen consecutive patients with the Duchenne muscular dystrophy (DMD) phenotype were studied. Each patient was asked to undergo an ophthalmic examination, an electroretinogram (ERG), and to donate a blood sample for molecular diagnosis. All 15 pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b644c4c0b214f7a32e153b656fee62f
https://doi.org/10.1136/bjo.78.9.719
https://doi.org/10.1136/bjo.78.9.719
Publikováno v:
Journal of Medical Genetics. 28:232-240
Fabry disease is an X linked recessive disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase (alpha-gal). Measurement of the enzyme activity, however, is not an accurate method for identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24890cf83dfbefda76d7ac5228af165
https://doi.org/10.1136/jmg.28.4.232
https://doi.org/10.1136/jmg.28.4.232
Autor:
L M, Ball, C L, Lannon, M, Yhap, A F, Pyesmany, M, Henry, K, Laybolt, D C, Riddell, D, van Velzen
Publikováno v:
Advances in experimental medicine and biology. 457
Drug resistance to DNA directed therapy may depend on proliferative as well as apoptotic cell fraction. PCNA/Ki67 ratio excess, possibly reflecting DNA excision repair, is of additional interest to drug resistance in MTT testing. The cell cycle phase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7039cf1395ae36dd94508a4761e35cd
https://pubmed.ncbi.nlm.nih.gov/10500804
https://pubmed.ncbi.nlm.nih.gov/10500804
Publikováno v:
Advances in experimental medicine and biology. 457
Apoptotic cell fraction and presence or degree of aneuploidy may both affect treatment outcome in childhood acute lymphoblastic leukaemia (ALL), which is largely defined by drug resistance. Independence of the variables is at present not established.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6c978478e965834708a509842b4c7b5f
https://pubmed.ncbi.nlm.nih.gov/10500803
https://pubmed.ncbi.nlm.nih.gov/10500803
Publikováno v:
Advances in experimental medicine and biology. 457
Treatment response/drug resistance in childhood acute lymphoblastic leukaemia (ALL) is related to presenting white cell count. This relationship might be explained by high proliferation fraction or by absence of significant apoptosis, but is presentl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b8879f0a317e189416d0822c6110f254
https://pubmed.ncbi.nlm.nih.gov/10500806
https://pubmed.ncbi.nlm.nih.gov/10500806
Autor:
L M, Ball, A F, Pyesmany, M, Yhap, C L, Lannon, M, Henry, K, Laybolt, D C, Riddell, D, van Velzen
Publikováno v:
Advances in experimental medicine and biology. 457
Tumour doubling time, a parameter in drug sensitivity testing, reflects both cell proliferation and apoptosis. Variable apoptosis fractions may explain the poor correlation of S-fraction and drug response. DNA aneuploidy (reflecting intrinsic DNA ins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50bfe4c452fe199649f59e5eb3117beb
https://pubmed.ncbi.nlm.nih.gov/10500805
https://pubmed.ncbi.nlm.nih.gov/10500805
Autor:
W L, Greer, D C, Riddell, S, Murty, T L, Gillan, G S, Girouard, S M, Sparrow, C, Tatlidil, M J, Dobson, P E, Neumann
Publikováno v:
Clinical genetics. 55(4)
Niemann-Pick type D (NPD) disease is a severe degenerative disorder of the nervous system characterized by the accumulation of tissue cholesterol and sphingomyelin. Because of a founder effect, it is unusually common in southwestern Nova Scotia, Cana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9d77fd63c830c244d135249975ee81d9
https://pubmed.ncbi.nlm.nih.gov/10361985
https://pubmed.ncbi.nlm.nih.gov/10361985
Publikováno v:
Clinical and investigative medicine. Medecine clinique et experimentale. 20(5)
To refine the position of and isolate the gene responsible for Niemann-Pick Type II (NP Type II) disease, an autosomal, recessive neurodegenerative disorder usually affecting children. The underlying biochemical defect results in an impairment in tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d07d84137a5be7144527d0c0fac197a
https://pubmed.ncbi.nlm.nih.gov/9336659
https://pubmed.ncbi.nlm.nih.gov/9336659
Publikováno v:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. 29(6)
Patients with Duchenne muscular dystrophy (DMD) have recently been reported to have an abnormal scotopic electroretinogram (ERG) showing weak rod-related responses along with a negative configuration of the bright-flash response, which has been descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f99c3a05a788e27d9eaa58dee60bb27
https://pubmed.ncbi.nlm.nih.gov/7834566
https://pubmed.ncbi.nlm.nih.gov/7834566