[Cardiopulmonary exercise testing for the diagnosis of unexplained dyspnea: a review of 194 cases].
Sign Up to like & getrecommendations! Published in 2019 at "Revue des maladies respiratoires"
DOI: 10.1016/j.rmr.2019.03.012
Abstract: INTRODUCTION Chronic dyspnoea that remains unexplained after resting pulmonary function and cardiovascular testing is a common problem in clinical practice. The aim of this study was to determine the utility of cardiopulmonary exercise testing (CPET)… read more here.
Keywords: diagnosis; exercise testing; cardiopulmonary exercise; diagnosis unexplained ... See more keywords
Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2018-205420
Abstract: Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic disorder causing congenital haemolytic anaemia (CHA). Diagnosis of GPI deficiency by the biochemical method is unpredicted. Molecular diagnosis by identifying genetic mutation is the gold standard… read more here.
Keywords: anaemia; diagnosis unexplained; unexplained haemolytic; haemolytic anaemia ... See more keywords