LOWE'S SYNDROME: Absence of Amino Acid Transport Defect in Cultured Fibroblasts |
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| Authors: | CHRISTOS S. BARTSOCAS RICHARD W. ERBE |
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| Affiliation: | Department of Pediatrics, Harvard Medical School, and the Children's Service, Massachusetts General Hospital, Boston, Mass, USA |
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| Abstract: | Transport of lysine and glycine was studied in cultured fibroblasts of a patient with Lowe's oculocerebrorenal syndrome. Although patients with this syndrome demonstrate renal and intestinal amino acid transport defects, no abnormality was found in our study. |
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| Keywords: | Lowe's syndrome oculocerebrorenal syndrome amino acid transport fibroblast cultures |
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