Proposed diagnostic algorithm for patients with suspected Niemann

Algorithms for Cardiac Amyloidosis Diagnosis: How to apply them in practice? - ABC Heart Failure & Cardiomyopathy

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

AL Amyloidosis for the Cardiologist and Oncologist: Epidemiology, Diagnosis, and Management

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Prehospital Activation of Hospital Resources (PreAct) ST‐Segment–Elevation Myocardial Infarction (STEMI): A Standardized Approach to Prehospital Activation and Direct to the Catheterization Laboratory for STEMI Recommendations From the American Heart

Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test - ScienceDirect

A recessive ataxia diagnosis algorithm for the next generation sequencing era - Renaud - 2017 - Annals of Neurology - Wiley Online Library

Early quantitative infrared pupillometry for prediction of neurological outcome in patients admitted to intensive care after out-of-hospital cardiac arrest - British Journal of Anaesthesia

PDF) Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study – topic of research paper in Clinical medicine. Download

Diagnostic approach in adult-onset neurometabolic diseases

Proposed diagnostic algorithm for patients with suspected non-high-risk

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants