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  1. Article

    Open Access

    Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study

    The aim of this study was to compare the prevalence of oral diseases (caries, periodontal disease, enamel defects) between patients with phenylketonuria (PKU), their siblings, and a matched control group.

    Anne Carolin Bingöl, Memduh Bingöl, Nikolaos Pandis… in Clinical Oral Investigations (2023)

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  2. No Access

    Article

    Chronic kidney disease in adolescent and adult patients with phenylketonuria

    A lifelong phenylalanine-restricted diet with supplementation of a phenylalanine-free amino acid formula is recommended in patients with phenylketonuria (PKU). The effect of a long-term PKU diet on renal funct...

    Julia B. Hennermann, Sylvia Roloff… in Journal of Inherited Metabolic Disease (2013)

  3. No Access

    Article

    Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

    Galactokinase deficiency (GALK-D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral catara...

    Julia B. Hennermann, Peter Schadewaldt… in Journal of Inherited Metabolic Disease (2011)

  4. 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)

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  5. 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)

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  6. 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)

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