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  1. Article

    Open Access

    Functional connectivity of cognition-related brain networks in adults with fetal alcohol syndrome

    Fetal alcohol syndrome (FAS) can result in cognitive dysfunction. Cognitive functions affected are subserved by few functional brain networks. Functional connectivity (FC) in these networks can be assessed wit...

    Benedikt Sundermann, Reinhold Feldmann, Christian Mathys, Johanna M. H. Rau… in BMC Medicine (2023)

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    Article

    Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ

    In phenylketonuria, treatment and subsequent lowering of phenylalanine levels usually occur within the first month of life. This study investigated whether different indicators of metabolic control during the ...

    Geertje B. Liemburg, Stephan C. J. Huijbregts, Frank Rutsch… in Pediatric Research (2022)

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    Chapter

    Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

    Objective: Identifying phenylalanine hydroxylase (PAH) mutations associated with sapropterin response in phenylketonuria (PKU) would be an advantageous means to determine clinical benefit to saprop...

    Sarah Leuders, Eva Wolfgart, Torsten Ott… in JIMD Reports - Case and Research Reports, … (2014)

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    Article

    Tackling frontal lobe–related functions in PKU through functional brain imaging: a Stroop task in adult patients

    Profound mental retardation in phenylketonuria (PKU) can be prevented by a low phenylalanine (Phe) diet. However, even patients treated early have inconsistently shown deficits in several frontal lobe–related ...

    Benedikt Sundermann, Bettina Pfleiderer… in Journal of Inherited Metabolic Disease (2011)

  5. Article

    Phenylketonuria: No Specific Frontal Lobe-Dependent Neuropsychological Deficits of Early-Treated Patients in Comparison with Diabetics

    Neuropsychologic studies have shown that even phenylketonuric patients treated early suffer from phenylalanine-related deficits in all age periods, from childhood to adulthood. This study was performed to dete...

    Reinhold Feldmann, Jonas Denecke, Michael Pietsch, Michael Grenzebach… in Pediatric Research (2002)

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  6. Article

    Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

    There is international consensus that patients with phenylalanine (Phe) levels <360 μM on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 μM do. Clinical outcome of pat...

    Josef Weglage, Michael Pietsch, Reinhold Feldmann, Hans-Georg Koch… in Pediatric Research (2001)

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    Article

    Comments on behaviour in early treated phenylketonuria

    Josef Weglage in European Journal of Pediatrics (2000)

  8. No Access

    Article

    In vivo proton magnetic resonance spectroscopy in phenylketonuria

    In vivo nuclear magnetic resonance spectroscopy permits the non-invasive examination of metabolic characteristics of the human brain in a clinical environment. Methods to detect elevated phenylalanine (Phe) i...

    Harald E. Möller, Kurt Ullrich, Josef Weglage in European Journal of Pediatrics (2000)

  9. Article

    252 INTELLECTUAL OUTCOME AND CRANIAL MRI-FINDINGS IN PATIENTS WITH PERSISTENT HYPERPHENYLALANINEHIA (HPA)

    The intellectual outcome of patients with HPA (serum phe levels under free diet < 600 μmol/l) was not systematically studied so far. Therefore we tested 31 patients (age: 22 ± 4 years) for IQ (WAIS-R) and scho...

    Josef Weglage, Kurt Ullrich, Birgit Fünders, Michael Pietsch… in Pediatric Research (1994)

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