Results 191 to 200 of about 18,706 (235)

Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis

Clinical Genetics, 1984
An adult patient is described with hepatomegaly and sea‐blue histiocytes in the bone marrow. A diagnosis of cholesterol ester storage disease was established following enzyme and lipid analyses on liver biopsy and cultured skin fibroblasts. Acid esterase activity was deficient (approx.
G T N Besley, Emer Lawlor, D M Broadhead
exaly   +3 more sources

Cholesterol ester storage disease: Clinical, biochemical, and pathological studies

Journal of Pediatrics, 1977
Of three siblings affected with cholesterol ester storage disease, two died at ages 7 and 9 years, respectively, with hepatic scarring and portal hypertension. Lipid storage was documented in both patients, as were esophageal varices and aortic plaques in the older child.
George D Ferry, Harvey S Rosenberg, A L Beaudet   +2 more
exaly   +3 more sources

Deficient Activity of Hepatic Acid Lipase in Cholesterol Ester Storage Disease

Science, 1972
Absence of lysosomal acid lipase activity in the liver is described in cholesterol ester storage disease and Wolman's disease. This enzyme deficiency may result in the excess hepatic cholesterol ester found in both conditions. However, clinical, genetic, and histopathologic differences suggest that the two conditions are separate diseases not ...
William K Schubert, W K Schubert
exaly   +3 more sources

Treatment and liver transplantation for cholesterol ester storage disease

Journal of Pediatrics, 1995
Roberto Antonicelli
exaly   +2 more sources

Wolman’s Disease and Cholesterol Ester Storage Disease

1989
Wolman’s disease (WD) and cholesterol ester storage disease (CESD) represent two variants of acid lipase (acid esterase) deficiency. They have both an autosomal recessive mode of inheritance.
Jacob Valk, Marjo S. van der Knaap
openaire   +1 more source

Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease

Annals of Clinical Biochemistry, 2000
We confirmed accumulation of glycogen and lipids, particularly cholesterol esters, in the liver of a patient with cholesterol ester storage disease (CESD). Hepatic cholesterol ester concentration was 100-200 times that found in normal livers. Analysis of the fatty acid composition indicated a higher proportion (41%) of cholesterol linoleate (C18-2), a ...
Yukio Tashiro
exaly   +3 more sources

Lovastatin therapy for cholesterol ester storage disease in two sisters

The Journal of Pediatrics, 1991
We administered lovastatin to two sisters, aged 4 and 17 years, who had cholesterol ester storage disease, an autosomal recessive disorder manifested by hypercholesterolemia and hypertriglyceridemia. The drug, a competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, was taken orally for 6 months.
M D, Tarantino, D J, McNamara, P, Granstrom, R D, Ellefson, E C, Unger, J N, Udall   +5 more
openaire   +2 more sources

Cholesterol Ester Storage Disease/Wolman Disease

2009
Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Michael Trauner, Michael Trauner, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Lee A. Denson, Frank Lammert, Tilman Sauerbruch, Lee A. Denson, Peter L. M. Jansen, Peter L. M. Jansen, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Alexander K. C. Leung, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alexander A. C. Leung, Patrick T. S. Ma, Alexander K. C. Leung, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch   +199 more
exaly   +2 more sources

Cholesteryl Ester Storage Disease with Secondary Lecithin Cholesterol Acyl Transferase Deficiency

Journal of Inherited Metabolic Disease, 1988
Cholesterol ester storage disease (CESD; McKusick 21500) is a rare lipid storage disorder inherited in an autosomal recessive manner. The disease results from a marked deficiency of lysosomal acid esterase activity which gives characteristic blood lipid abnormalities (plasma lipoprotein pattern type IIa or IIb). Wolman’s disease is the more severe form
Van Erum, S., Gnat, Danielle, Finne, C., Blum, Denise, Vanhelleputte, Corinne, Vamos, Eszter, Vertongen, Françoise   +6 more
openaire   +3 more sources

[Cholesterol ester storage disease in two siblings].

Anales espanoles de pediatria, 1990
Two children, male y and female brothers, with a cholesterol ester storage disease are presented. Some pathogenic, clinical biochemical and histopathological aspects are commented. The ultrastructural hepatic finding of microcrystallized cholesterol in the Von Kupffer's cells was the determinant diagnostic parameter in both cases.
J M, Pérez Rodríguez-Cuesta, J I, Suárez Tomás, M E, Suárez Menéndez, J, Domínguez González   +3 more
openaire   +1 more source