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Microarray analysis of placental tissue in intrauterine growth restriction
Objective  Besides foetal or maternal disorders, placental dysfunction is a major cause of intrauterine growth restriction (IUGR). Although numerous macro‐ and histopathological changes have beenExpand
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Placental 11β-HSD2 Gene Expression at Birth Is Inversely Correlated With Growth Velocity in the First Year of Life After Intrauterine Growth Restriction
Intrauterine growth restriction (IUGR) is associated with an increased risk for short stature and diseases in adulthood thought to be inflicted by fetal programming. We hypothesized that placentalExpand
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Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?
Background A phenylalanine (Phe) restricted dietary management is required in phenylketonuria (PKU) to maintain good metabolic control. Nevertheless, five different models of dietary regimes, whichExpand
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Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis
Background: Phenylketonuria (PKU) is caused by a severe phenylalanine hydroxylase deficiency; the mainstay of treatment is a low-phenylalanine diet. A diet which is so restrictive is associated withExpand
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Neonatal Cholestasis – Differential Diagnoses, Current Diagnostic Procedures, and Treatment
Cholestatic jaundice in early infancy is a complex diagnostic problem. Misdiagnosis of cholestasis as physiologic jaundice delays the identification of severe liver diseases. In the majority ofExpand
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Homozygous familial hypercholesterolemia with severe involvement of the aortic valve—A sibling‐controlled case study on the efficacy of lipoprotein apheresis
Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid‐lowering therapy (LLT)Expand
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Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
BACKGROUND The detection of methylmalonic acid (MMA) by second-tier analysis has been shown to reduce the number of false positives in newborn screening (NBS) for genetically determined methylmalonicExpand
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