Proposed diagnostic algorithm for patients with suspected Niemann
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Last updated 12 abril 2025


The diagnosis of young-onset dementia - The Lancet Neurology

PDF) Genetic and laboratory diagnostic approach in Niemann Pick disease type C

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

How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach - ScienceDirect

Clinical Nutrition in Critical Care Medicine – Guideline of the German Society for Nutritional Medicine (DGEM) - Clinical Nutrition ESPEN

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

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Table 6 from Recommendations on the diagnosis and management of Niemann-Pick disease type C.

Central Retinal Artery Occlusion: A Review of Pathophysiological Features and Management

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

IJMS, Free Full-Text

Diagnosis of wild‐type transthyretin amyloid cardiomyopathy in Japan: red‐flag symptom clusters and diagnostic algorithm - Inomata - 2021 - ESC Heart Failure - Wiley Online Library

Full article: Diagnosis and Screening of Patients with Fabry Disease
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