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LOWE'S SYNDROME: Absence of Amino Acid Transport Defect in Cultured Fibroblasts

  • Massachusetts General Hospital

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)615-616
Number of pages2
JournalActa Paediatrica, International Journal of Paediatrics
Volume62
Issue number6
DOIs
StatePublished - Dec 1973

Keywords

  • amino acid transport
  • fibroblast cultures
  • Lowe's syndrome
  • oculocerebrorenal syndrome

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