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Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature
ORPHANET JOURNAL OF RARE DISEASES
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View 48
Incidence, disease onset and short-term outcome in urea cycle disorders – cross border surveillance in Germany, Austria and Switzerland
View 68
Evaluation of a web-based registry of inherited bleeding disorders: A descriptive study of the Brazilian experience with HEMOVIDAweb coagulopatias
View 66
The complete European guidelines on phenylketonuria: diagnosis and treatment
View 71