Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model

ABSTRACT Classic galactosemia results from deficient activity of galactose‐1‐phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal develop...

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Veröffentlicht in:	Anatomical record (Hoboken, N.J. : 2007) N.J. : 2007), 2017-09, Vol.300 (9), p.1570-1575
Hauptverfasser:	Coelho, Ana I., Bierau, Jörgen, Lindhout, Martijn, Achten, Jelle, Kramer, Boris W., Rubio‐Gozalbo, M. Estela
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals chronic complications classic galactosemia developmental basis of disease Female Fertility Fetuses Galactose Galactosemia Galactosemias - embryology Galactosemias - enzymology GALT enzyme activity Gestational age Kidneys Liver neonatal complications Organs Prenatal development prenatal toxicity Sheep - embryology sheep model Small intestine Toxicity UTP-Hexose-1-Phosphate Uridylyltransferase - metabolism
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