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[Congenital galactosemia in newborn infant with vascular malformation of the internal organs].
- Source :
-
Arkhiv patologii [Arkh Patol] 2011 Nov-Dec; Vol. 73 (6), pp. 44-7. - Publication Year :
- 2011
-
Abstract
- The paper describes a case of hereditary thesaurismosis - galactosemia in neonate infant with mutation of GALT-gene (Q188R/N) and vascular malformation of the internal organs.
- Subjects :
- Abnormalities, Multiple blood
Abnormalities, Multiple genetics
Fatal Outcome
Galactose blood
Galactosemias blood
Galactosemias genetics
Humans
Infant, Newborn
Male
UTP-Hexose-1-Phosphate Uridylyltransferase genetics
Vascular Malformations blood
Vascular Malformations genetics
Abnormalities, Multiple diagnosis
Galactosemias diagnosis
Vascular Malformations diagnosis
Subjects
Details
- Language :
- Russian
- ISSN :
- 0004-1955
- Volume :
- 73
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Arkhiv patologii
- Publication Type :
- Academic Journal
- Accession number :
- 22379901