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An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed by Newborn Screening
In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. Neonatal screening for hypergalactosemia in Berlin has been performed by th...
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Article
HFE gene mutation and transferrin saturation in very low birthweight infants
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Article
1136 URINARY EXCRETION OF GAMMA-HYDROXYBUTYRIC ACID IN A PATIENT WITH NEUROLOGICAL ABNORMALITIES; A NEW INBORN ERROR OF AMINO ACID METABOLISM?
A 20 year old male of consanguinous Turkish parents presented with mental and physical retardation, ataxia, hypotonia, and EEG-abnormalities. Gas chromatographic-mass spectrometric studies of urinary organic a...