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I-cell disease |
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I-cell disease see mucolipidosis II. I-cell disease Type II mucolipidosis An AR condition caused by a defect in protein trafficking and sorting, resulting in massive accumulation of intracellular and extracellular waste products, especially glycolipids Clinical Hurler-like/type
I-H mucopolysaccharidosis disease with a gargoyle face, early onset of psychomotor retardation, joint contracture, hepatosplenomegaly and cardiac decompensation, with death in childhood Lab Normal urinary mucopolysaccharides, vacuolated lymphocytes,
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I and D I and O I band I cell I cell disease I&D I-125 radioactive seed I-cell disease i-isomer i.c. I.H i.t. i.v. I.W.S. I:E ratio |
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