Marco Spada

TL;DR: The results suggest that the later-onset phenotype of Fabry disease is underdiagnosed among males with cardiac, cerebrovascular, and/or renal disease and raises ethical issues related to when screening should be performed--in the neonatal period or at early maturity, perhaps in conjunction with screening for other treatable adult-ONSet disorders.

TL;DR: Almost all the patients, especially those with early onset, had some degree of neurologic impairment and mental retardation, and many patients were at less than 2 SD for weight or height or both, in contrast, the neurologic and mental status of the late-onset patients was frequently normal, and their weight and height were more often within normal limits.

TL;DR: A comprehensive systematic literature review of all original articles on Enzyme Replacement Therapy (ERT) in the treatment of Fabry disease published up until January 2017 is presented in adult male patients.

TL;DR: The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.

TL;DR: The prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development, and the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future.