TY - JOUR
AU - Frost, Phillip
AB - 
        
          To the Editor.—
          The purpose of the paper we wrote was primarily to indicate that the hypoxanthine-guanine phosphoribosyl transferase deficiency is also present in skin epithelial tissue, and to point out that mosaicism is not discernible in female heterozygotes for this disorder.
          As a practical matter, skin biopsy specimens may be useful for diagnosis in situations in which it is not possible to assay blood samples quickly. One can inject labelled precursor into the skin 30 minutes before taking the biopsy specimen, or incubate skin specimens with labelled precursor in vitro. Such specimens may be stored in formaldehyde solution indefinitely, until autoradiographs are prepared for study at one's convenience.
        
      
TI - Diagnosis of the Lesch-Nyhan Syndrome
JF - JAMA
DO - 10.1001/jama.1970.03170280059033
DA - 1970-07-13
UR - https://www.deepdyve.com/lp/american-medical-association/diagnosis-of-the-lesch-nyhan-syndrome-P17NoV2Hy0
SP - 301
EP - 301
VL - 213
IS - 2
DP - DeepDyve
ER -