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A 41-year-old man had ichtyrosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver skin, leukocytes, and gastric mucosa. Lipid storage was particularly marked in cultures of skin and muscle, and it increased in subsequent cell generations. By electron microscopy, the lipid globules showed no limiting membranes. The stored lipid was identified by thin-layer chromatography as triglyceride; there was no excess of cholesterol or cholesteryl esters. Muscle carnitine concentration and activities of carnitine palmityltransferase and acid lipase were normal; 14CO2 production from labeled palmitate in leukocytes was not impaired. The excessive accumulation of triglyceride in different tissues and in the progeny of cells in tissue culture suggests a genetic error of lipid metabolism.
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
February 2011,
Current neurology and neuroscience reports,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
September 1985,
Orvosi hetilap,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
March 2004,
Indian journal of pediatrics,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
April 1985,
American journal of medical genetics,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
February 1988,
American journal of medical genetics,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
October 1977,
Annals of internal medicine,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
September 2016,
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
April 1982,
Rinsho shinkeigaku = Clinical neurology,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
July 2003,
Zhonghua er ke za zhi = Chinese journal of pediatrics,
A Miranda, and
S DiMauro, and
A Eastwood, and
A Hays, and
W G Johnson, and
M Olarte, and
R Whitlock, and
R Mayeux, and
L P Rowland
May 1984,
Archives of neurology,
