Catharina Whybra

TL;DR: The cumulative incidence pattern of MPS in Germany was compared with the corresponding rates among other industrial nations obtained from recent literature: the crude cumulative rates for all types of mucopolysaccharidoses were similar among all published populations; however, different frequencies of the various forms of M PS were observed.

TL;DR: It appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease.

TL;DR: It is shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT‐related treatment effects.

TL;DR: Although the life-threatening complications of Fabry disease are not seen in children, the present analysis shows that other symptoms are common and may have an impact on quality of life.

TL;DR: It is crucial for paediatric Fabry disease patients to have early access to optimal supportive symptomatic management and enzyme replacement therapy should be initiated at an early stage, prior to the onset of irreversible complications.