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  • Title: Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case.
    Author: Cipolloni C, Boldrini A, Donti E, Maiorana A, Coppa GV.
    Journal: Helv Paediatr Acta; 1980 Mar; 35(1):85-95. PubMed ID: 7410106.
    Abstract:
    Clinical, radiological and biochemical findings are described in a male newborn with mucolipidosis II (I-cell disease). At birth a characteristic somatic picture, skeletal anomalies, vacuolated lymphocytes in peripheral blood, typical signs of a metabolic disorder, were present. The daily excretion of urinary mucopolysaccharides was within normal range, nevertheless an anomalous pattern consisting in a high amount of dermatan sulfate was found. The excretion of urinary sialyl oligosaccharidases was increased. Cultured skin fibroblasts showed the typical "I-cell" phenomenon. The activities of serveral lysosomal enzymes were strikingly increased in serum, but not in leucocytes. No significant variations of acid hydrolase activities were found in the patient's relatives.
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