Clouds still gathering over galactosaemia

The progress that has been made toward understanding the complications of galactosemia and preventing them is described. This disorder of the galactose metabolism is caused by a deficiency of the enzyme galactose-1-phosphate uridyl transferase and usually appears in the first weeks of life with live...

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Published in:The Lancet (British edition) 1994-11, Vol.344 (8932), p.1242-1243
Main Authors: Holton, J.B., Leonard, J.V.
Format: Article
Language:English
Subjects:
Blood
Child
Child, Preschool
Childrens health
Cholera
Developmental Disabilities - epidemiology
Developmental Disabilities - etiology
Disease
Enzymes
Epidemiology
Female
Fetuses
Galactosemia
Galactosemias - complications
Galactosemias - diagnosis
Galactosemias - genetics
Galactosemias - therapy
Hepatitis A
Humans
Immunization
Infant
Infections
Liver
Male
Medical disorders
Medical research
Metabolism
Metabolites
Mutation
Ovaries
Patients
Prevention
Prognosis
Tropical diseases
Vaccines
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creator Holton, J.B.
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description The progress that has been made toward understanding the complications of galactosemia and preventing them is described. This disorder of the galactose metabolism is caused by a deficiency of the enzyme galactose-1-phosphate uridyl transferase and usually appears in the first weeks of life with liver dysfunction and sepsis.
doi_str_mv 10.1016/S0140-6736(94)90745-5
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identifier ISSN: 0140-6736
ispartof The Lancet (British edition), 1994-11, Vol.344 (8932), p.1242-1243
issn 0140-6736
1474-547X
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subjects Blood
Child
Child, Preschool
Childrens health
Cholera
Developmental Disabilities - epidemiology
Developmental Disabilities - etiology
Disease
Enzymes
Epidemiology
Female
Fetuses
Galactosemia
Galactosemias - complications
Galactosemias - diagnosis
Galactosemias - genetics
Galactosemias - therapy
Hepatitis A
Humans
Immunization
Infant
Infections
Liver
Male
Medical disorders
Medical research
Metabolism
Metabolites
Mutation
Ovaries
Patients
Prevention
Prognosis
Tropical diseases
Vaccines
title Clouds still gathering over galactosaemia
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