Zobrazeno 1 - 4
of 4
pro vyhledávání: '"R. George F. Gray"'
Autor:
R. George F. Gray, Julian Blake, Jan-Willem Taanman, James V. Leonard, Patrick J. McKiernan, Andrew M. M. Morris, Anthony H.V. Schapira, J. Mark Cooper
Publikováno v:
The American Journal of Pathology. 155:67-70
Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::179e494ac8bd407ce3d8c63c78080b35
https://doi.org/10.1016/s0002-9440(10)65100-0
https://doi.org/10.1016/s0002-9440(10)65100-0
Autor:
R. George F. Gray, SL Williams, James V. Leonard, Anthony H.V. Schapira, Jan-Willem Taanman, Hans R. Scholte
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology. 81(8)
Conventional approaches to the diagnosis of mitochondrial respiratory chain diseases, using enzyme assays and histochemistry, are laborious and give limited information concerning the genetic basis of a deficiency. We have evaluated the diagnostic va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb09ddca4bf033d4f9d859ba78756e22
https://pubmed.ncbi.nlm.nih.gov/11502858
https://pubmed.ncbi.nlm.nih.gov/11502858
Autor:
Tracey A Willis, Judith Davidson, Kelvin Poulton, Pramila Ramani, R George F Gray, William P Whitehouse
Publikováno v:
Developmental medicine and child neurology. 42(6)
Hypoxic-ischaemic encephalopathy (HIE) was diagnosed in an infant with acidosis. At 7 weeks of age further investigations revealed abnormal neuroimaging (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal-muscle biopsy at 2 months of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f6f4c1cdd5f15ee0b9304e16fc60da
https://pubmed.ncbi.nlm.nih.gov/10875529
https://pubmed.ncbi.nlm.nih.gov/10875529
Autor:
M. A. Vilaseca, R. George F. Gray, Nobutake Matsuo, Lluis Amat, Ronald J. Sokol, Barbara Burwinkel, Manfred W. Kilimann, Kuniaki Narisawa, Koji Muroya
Publikováno v:
Human genetics. 102(4)
X-linked liver glycogenosis (XLG) resulting from phosphorylase kinase (Phk) deficiency is one of the most common forms of glycogen storage disease. It is caused by mutations in the gene encoding the liver isoform of the Phk alpha subunit (PHKA2). In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8c9f3fc976863d58fe5d3717c0d04c
https://pubmed.ncbi.nlm.nih.gov/9600238
https://pubmed.ncbi.nlm.nih.gov/9600238