Search Results - "Aizin, A."

Mucolipidosis III presenting as a rheumatological disorder by Brik, R, Mandel, H, Aizin, A, Goldscher, D, Ziegler, M, Bialik, V, Berant, M

“…Genetic disorders of the osseous skeleton constitute a challenging area of differential diagnosis. Three patients, 2 girls and 1 boy, were referred to our…”
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Plasma lipoproteins and monocyte‐macrophages in a peroxisome‐deficient system: Study of a patient with infantile refsum disease by Mandel, H., Berant, M., Meiron, D., Aizin, A., Oiknine, J., Brook, J. G., Aviram, M.

“…Summary Hypocholesterolaemia in infantile Refsum disease (IRD) may link peroxisomes and lipoprotein metabolism. In our patient, plasma cholesterol levels were…”
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Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma by Mandel, H., Gozal, D., Aizin, A., Tavori, S., Jaffe, M.

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Zellweger‐like phenotype in two siblings: A defect in peroxisomal β‐oxidation with elevated very long‐chain fatty acids but normal bile acids by Mandel, H., Berant, M., Aizin, A., Gershony, R., Hemmli, S., Schutgens, R. B. H., Wanders, R. J. A.

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A new type of peroxisomal disorder with variable expression in liver and fibroblasts by Mandel, Hanna, Espeel, Marck, Roels, Frank, Sofer, Neomi, Luder, Anthony, Iancu, Theodore C., Aizin, Anna, Berant, Moshe, Wanders, Ronald J.A., Schutgens, Ruud B.H.

“…We describe two siblings, presently 5 and 9 years of age, who had neurodegenerative symptoms after the first year of life. Although they lacked clinical…”
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Inborn errors of metabolism: lessons from a clinical case by Mandel, H, Mendelsohn, H, Aizin, A, Dar, H, el-Peleg, O

“…Dramatic advances in recent years in the diagnosis and treatment of inborn errors of metabolism (IEM) make it imperative for the physician to be both aware of…”
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