2 results match your criteria: "Children's Hospital of the University of Mainz[Affiliation]"

Background: Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular disease. Conventional MRI shows an extensive load of white matter lesions (WMLs) which may already be present at an early stage in the disease.

Objective: Investigator independent and sensitive quantification of structural changes in the brain in clinically affected men and women with FD.

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Background: Fecal alpha 1-antitrypsin is used as a marker for intestinal protein loss reflecting increased intestinal permeability. Exact data of fecal alpha 1-antitrypsin in newborn infants are not available.

Methods: 30 healthy mature neonates and three infants with impaired gastrointestinal passage due to stenoses and atresia respectively, were investigated during the first days of life.

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