Proposed diagnostic algorithm for patients with suspected Niemann

A reappraisal of Gaucher disease-diagnosis and disease management algorithms. - Abstract - Europe PMC

Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy - Canadian Journal of Cardiology

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Genetic Testing for the Diagnosis of Inherited Peripheral Neuropathies

Frontiers Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia

Proposed diagnostic algorithm for the detection of steatosis and

Proposed diagnostic algorithm for patients with suspected Niemann-Pick

Disease diagnostics using machine learning of immune receptors

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

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