作者: Alexander A. Broomfield , Raja Padidela , Stuart Wilkinson
DOI: 10.1016/J.PCL.2020.09.011
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摘要: Advances in technology, methodology, and deep phenotyping are increasingly driving the understanding of pathologic basis disease. Improvements patient identification treatment impacting survival. This is true endocrinology inborn errors metabolism, where disease-modifying therapies developing. Inherent to this evolution increasing awareness respiratory manifestations these rare diseases. review updates clinicians, stratifying diseases spirometerically; pulmonary hypertension with a predisposition recurrent infection discussed. division artificial; many have multiple effects on respiration. does not cover impact obesity.