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Items: 10

1.
Mutations and phenotype in isolated glycerol kinase deficiency.
A. P. Walker, F. Muscatelli, A. N. Stafford, J. Chelly, N. Dahl, H. K. Blomquist, J. Delanghe, P. J. Willems, B. Steinmann, A. P. Monaco
Am J Hum Genet. 1996 Jun; 58(6): 1205–1211.
PMCID:
PMC1915081
SummaryPage BrowsePDF–1.7M
2.
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation
C. Sargent, A. Kidd, S. Moore, J. Dean, G. Besley, N. Affara
J Med Genet. 2000 Jun; 37(6): 434–441. doi: 10.1136/jmg.37.6.434
PMCID:
PMC1734616
SummaryPDF–597K
3.
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
D R Sjarif, R J Sinke, M Duran, F A Beemer, W J Kleijer, J K Ploos van Amstel, B T Poll-The
J Med Genet. 1998 Aug; 35(8): 650–656. doi: 10.1136/jmg.35.8.650
PMCID:
PMC1051390
SummaryPage BrowsePDF–1.5M
4.
Familial hyperglycerolemia.
C I Rose, D S Haines
J Clin Invest. 1978 Jan; 61(1): 163–170. doi: 10.1172/JCI108914
PMCID:
PMC372524
SummaryPage BrowsePDF–1.6M
5.
Glycerol Hypersensitivity in a Drosophila Model for Glycerol Kinase Deficiency Is Affected by Mutations in Eye Pigmentation Genes
Patrick J. Wightman, George R. Jackson, Katrina M. Dipple
PLoS One. 2012; 7(3): e31779. Published online 2012 Mar 9. doi: 10.1371/journal.pone.0031779
PMCID:
PMC3302884
AbstractArticlePDF–565K
6.
Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.
D Gaudet, S Arsenault, L Pérusse, M C Vohl, J St-Pierre, J Bergeron, J P Després, K Dewar, M J Daly, T Hudson, J D Rioux
Am J Hum Genet. 2000 May; 66(5): 1558–1568. Published online 2000 Mar 27. doi: 10.1086/302903
PMCID:
PMC1378005
SummaryPDF–419K
7.
Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications
Ankur Rughani, Kenneth Blick, Hui Pang, Monica Marin, Jonathan Meyer, Jeanie B. Tryggestad
Case Rep Pediatr. 2020; 2020: 4609317. Published online 2020 Aug 6. doi: 10.1155/2020/4609317
PMCID:
PMC7428955
AbstractArticlePDF–362K
8.
Hypolipidemic, Antioxidant and Antiinflammatory Activities of Microalgae Spirulina
Ruitang Deng, Te-Jin Chow
Cardiovasc Ther. Author manuscript; available in PMC 2011 Aug 1.
Published in final edited form as: Cardiovasc Ther. 2010 Aug; 28(4): e33–e45. doi: 10.1111/j.1755-5922.2010.00200.x
PMCID:
PMC2907180
AbstractArticlePDF–111K
9.
MD-2 is involved in the stimulation of matrix metalloproteinase-1 expression by interferon-γ and high glucose in mononuclear cells – a potential role of MD-2 in Toll-like receptor 4-independent signalling
Zhongyang Lu, Yanchun Li, Devadoss J Samuvel, Junfei Jin, Xiaoming Zhang, Maria F Lopes-Virella, Yan Huang
Immunology. 2013 Nov; 140(3): 301–313. Published online 2013 Oct 3. doi: 10.1111/imm.12138
PMCID:
PMC3800435
AbstractArticlePDF–608K
10.
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions
Uta Francke, John F. Harper, Basil T. Darras, Janet M. Cowan, Edward R. B. McCabe, Alfried Kohlschütter, William K. Seltzer, Fumiko Saito, Jun Goto, Jean-Paul Harpey, Joyce E. Wise
Am J Hum Genet. 1987 Mar; 40(3): 212–227.
PMCID:
PMC1684111
SummaryPage BrowsePDF–1.9M

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