Publications by authors named "Nathalie Weinhold"

Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. This has created a new challenge: as they grow up, the care of IMD patients' needs to be transferred from metabolic pediatricians to metabolic physicians specialized in treating adults, through a process called "transition.

View Article and Find Full Text PDF

We report on a 13-year-old-boy who had been admitted to our hospital for dyspnea, hypoxia, and pulmonary infiltrates. The diagnosis of allergic alveolitis was based on history (provocation by exposure), lung function tests, bronchoalveolar lavage, and transbronchial lung biopsy. No specific allergen could be identified.

View Article and Find Full Text PDF