Niemann-Pick Disease: Understanding the Distinct Entities of Type A & B and Type C

By Eugen Mengel, this comprehensive guide delves into the genetically and molecularly distinct entities of Niemann-Pick type A & B disease and Niemann-Pick type C disease. It provides an in-depth exploration of diagnostic options, therapeutic approaches, molecular biology, and the latest findings in the field of basic science.

Distinguishing Between Niemann-Pick Type A & B and Type C

This book serves as a valuable resource for understanding the differences between Niemann-Pick type A & B disease, which is a sphingomyelinase deficiency, and Niemann-Pick type C disease, an intracellular lipid transport defect. It offers insights into the clinical features and diagnostic pathways for each condition.

Comprehensive Diagnostic Guide

A dedicated chapter on diagnosis provides a quick reference for healthcare professionals, guiding them from clinical symptoms to a suspected diagnosis and finally to the confirmation of diagnosis in the laboratory. This section is particularly useful for those seeking a clear and concise diagnostic pathway.

Current Therapeutic Approaches

The book also covers the current therapeutic approaches for Niemann-Pick disease, providing healthcare professionals and researchers with the most up-to-date information on treatment options. This knowledge can help in developing more effective management strategies for patients with these conditions.

Molecular Biology and Basic Science

Furthermore, the book delves into the molecular biology of Niemann-Pick disease, shedding light on the latest findings in the field of basic science. This information is crucial for researchers and scientists working on understanding the underlying mechanisms of these conditions and developing new treatments.

Publication Details

Published by UNI-MED Verlag AG, this book is available in its 1st edition as of November 16, 2022. Written in English, it is an essential resource for healthcare professionals, researchers, and scientists interested in Niemann-Pick disease.