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Screening for galactosemia: Philippines experience. Newborn Screening Study Group.

Abstract

Galactosemia is an inborn error of galactose metabolism due to a deficiency of any of the galactokinase, galactose-1-phosphate uridyl transferase (GALT), or epimerase enzymes. The Philippines, with its pilot newborn screening project, has been screening for this disorder for 2 years now. A total of 62,841 babies have been screened using the galactose and galactose-1-phosphate spot test. Confirmatory testing is done by the newborn screening laboratory of the The New Children's Hospital in Westmead, Australia. Two cases of galactosemia: 1 classical galactosemia and 1 galactokinase deficiency have so far been confirmed. Clinical review, problems encountered, and management are described. Long-term outcome of these patients, however, is yet to be determined.

Authors+Show Affiliations

University of the Philippines Manila.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11405207

Citation

Lee, J Y., et al. "Screening for Galactosemia: Philippines Experience. Newborn Screening Study Group." The Southeast Asian Journal of Tropical Medicine and Public Health, vol. 30 Suppl 2, 1999, pp. 66-8.
Lee JY, Padilla CD, Chua EL. Screening for galactosemia: Philippines experience. Newborn Screening Study Group. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:66-8.
Lee, J. Y., Padilla, C. D., & Chua, E. L. (1999). Screening for galactosemia: Philippines experience. Newborn Screening Study Group. The Southeast Asian Journal of Tropical Medicine and Public Health, 30 Suppl 2, 66-8.
Lee JY, Padilla CD, Chua EL. Screening for Galactosemia: Philippines Experience. Newborn Screening Study Group. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:66-8. PubMed PMID: 11405207.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for galactosemia: Philippines experience. Newborn Screening Study Group. AU - Lee,J Y, AU - Padilla,C D, AU - Chua,E L, PY - 2001/6/19/pubmed PY - 2001/7/13/medline PY - 2001/6/19/entrez SP - 66 EP - 8 JF - The Southeast Asian journal of tropical medicine and public health JO - Southeast Asian J Trop Med Public Health VL - 30 Suppl 2 N2 - Galactosemia is an inborn error of galactose metabolism due to a deficiency of any of the galactokinase, galactose-1-phosphate uridyl transferase (GALT), or epimerase enzymes. The Philippines, with its pilot newborn screening project, has been screening for this disorder for 2 years now. A total of 62,841 babies have been screened using the galactose and galactose-1-phosphate spot test. Confirmatory testing is done by the newborn screening laboratory of the The New Children's Hospital in Westmead, Australia. Two cases of galactosemia: 1 classical galactosemia and 1 galactokinase deficiency have so far been confirmed. Clinical review, problems encountered, and management are described. Long-term outcome of these patients, however, is yet to be determined. SN - 0125-1562 UR - https://www.unboundmedicine.com/medline/citation/11405207/Screening_for_galactosemia:_Philippines_experience__Newborn_Screening_Study_Group_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -
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