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[Galactosemia].
Probl Med Wieku Rozwoj. 1979; 8:70-6.PM

Abstract

This paper is a review of inborn errors in galactose metabolism with special attention being paid to practical aspects of this problem. The authors presented the history of experimental research on galactose metabolism in human body, patomechanisms of biochemical abnormalities and clinical course of the disease as well as the review of genetic papers regarding polymarphism of galactose-1-phosphate uridyl transferase, galactosemic variants in human population and the possibilities of early diagnosis and treatment of galactosemia.

Authors

Grodzka Z
No affiliation info available
Zbieg-Sendecka E
No affiliation info available

MeSH

AllelesGalactokinaseGalactoseGalactosemiasHeterozygoteHomozygoteHumansInfantInfant, NewbornPolymorphism, GeneticUDPglucose 4-EpimeraseUDPglucose-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

English Abstract
Journal Article

Language

pol

PubMed ID

263529

Citation

Grodzka, Z, and E Zbieg-Sendecka. "[Galactosemia]." Problemy Medycyny Wieku Rozwojowego, vol. 8, 1979, pp. 70-6.
Grodzka Z, Zbieg-Sendecka E. [Galactosemia]. Probl Med Wieku Rozwoj. 1979;8:70-6.
Grodzka, Z., & Zbieg-Sendecka, E. (1979). [Galactosemia]. Problemy Medycyny Wieku Rozwojowego, 8, 70-6.
Grodzka Z, Zbieg-Sendecka E. [Galactosemia]. Probl Med Wieku Rozwoj. 1979;8:70-6. PubMed PMID: 263529.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Galactosemia]. AU - Grodzka,Z, AU - Zbieg-Sendecka,E, PY - 1979/1/1/pubmed PY - 1979/1/1/medline PY - 1979/1/1/entrez SP - 70 EP - 6 JF - Problemy medycyny wieku rozwojowego JO - Probl Med Wieku Rozwoj VL - 8 N2 - This paper is a review of inborn errors in galactose metabolism with special attention being paid to practical aspects of this problem. The authors presented the history of experimental research on galactose metabolism in human body, patomechanisms of biochemical abnormalities and clinical course of the disease as well as the review of genetic papers regarding polymarphism of galactose-1-phosphate uridyl transferase, galactosemic variants in human population and the possibilities of early diagnosis and treatment of galactosemia. SN - 0303-2264 UR - https://www.unboundmedicine.com/medline/citation/263529/[Galactosemia]_ L2 - https://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -