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Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens.
Clin Chim Acta. 1977 Jun 15; 77(3):295-9.CC

Abstract

Starch gel electrophoresis of galactose-1-phosphate uridylyl transferase has been adapted for use on dried filter paper blood specimens submitted for the purposes of routine newborn screening for galactosemia and other inborn errors of metabolism. Selected for study were those specimens with reduced transferase activity, as determined by the Beutler enzyme spot screening test. Clinically benign low activity enzyme variants were readily identified, thus reducing significantly the number of requested additional blood specimens. Transferase-deficient specimens with potential clinical significance had too little activity for transferase visualization and thus could be separated from the benign variants. This technique would facilitate routine newborn screening for galactosemia.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

872429

Citation

Hammersen, G, and H L. Levy. "Starch Gel Electrophoresis for Galactose-1-phosphate Uridylyl-transferase Applied to Dried Filter Paper Blood Specimens." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 77, no. 3, 1977, pp. 295-9.
Hammersen G, Levy HL. Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens. Clin Chim Acta. 1977;77(3):295-9.
Hammersen, G., & Levy, H. L. (1977). Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens. Clinica Chimica Acta; International Journal of Clinical Chemistry, 77(3), 295-9.
Hammersen G, Levy HL. Starch Gel Electrophoresis for Galactose-1-phosphate Uridylyl-transferase Applied to Dried Filter Paper Blood Specimens. Clin Chim Acta. 1977 Jun 15;77(3):295-9. PubMed PMID: 872429.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens. AU - Hammersen,G, AU - Levy,H L, PY - 1977/6/15/pubmed PY - 1977/6/15/medline PY - 1977/6/15/entrez SP - 295 EP - 9 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin. Chim. Acta VL - 77 IS - 3 N2 - Starch gel electrophoresis of galactose-1-phosphate uridylyl transferase has been adapted for use on dried filter paper blood specimens submitted for the purposes of routine newborn screening for galactosemia and other inborn errors of metabolism. Selected for study were those specimens with reduced transferase activity, as determined by the Beutler enzyme spot screening test. Clinically benign low activity enzyme variants were readily identified, thus reducing significantly the number of requested additional blood specimens. Transferase-deficient specimens with potential clinical significance had too little activity for transferase visualization and thus could be separated from the benign variants. This technique would facilitate routine newborn screening for galactosemia. SN - 0009-8981 UR - https://www.unboundmedicine.com/medline/citation/872429/Starch_gel_electrophoresis_for_galactose_1_phosphate_uridylyl_transferase_applied_to_dried_filter_paper_blood_specimens_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0009-8981(77)90232-7 DB - PRIME DP - Unbound Medicine ER -