3 Result(s)

Article

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...

Susanne Reich, Julia Hennermann, Barbara Vetter, Luitgard M Neumann… in Pediatric Research (2002)

Article

HFE gene mutation and transferrin saturation in very low birthweight infants

Rolf F Maier, Heiko Witt, Eberhard Mönch, Christoph Bührer in Pediatric Research (1999)

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...

Cornelis Jakobs, Monika Bojasch, Eberhard Mönch, Dietz Rating… in Pediatric Research (1981)