Lowe's syndrome. Absence of amino acid transport defect in cultured fibroblasts.
D000641:Ammonia; D001692:Biological Transport; D002250:Carbon Radioisotopes; D046508:Culture Techniques; D005128:Eye Diseases / Q000235:genetics*; D005347:Fibroblasts / Q000378:metabolism*; D005998:Glycine / Q000378:metabolism*; D006130:Growth Disorders / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007408:Intestinal Absorption; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism; D008239:Lysine / Q000378:metabolism*; D000608:Renal Aminoacidurias / Q000378:metabolism*; D013577:Syndrome
D002250:Carbon Radioisotopes; D000641:Ammonia; D008239:Lysine; D005998:Glycine