• Home
  • Topics
  • New
  • Forum
  • Quiz
  • About

Monday, 06 January 2025

Main

  • Home
  • Topics
  • New
  • Forum
  • Quiz
  • About

Editor

Here are a few examples of how you can use the search feature:

Entering this and that into the search form will return results containing both "this" and "that".

Entering this not that into the search form will return results containing "this" and not "that".

Entering this or that into the search form will return results containing either "this" or "that".

Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming ataxias is required, the following 46 results were found.

  1. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Overview Definition: Rare lysosomal storage disorders involving the accumulation of complex carbohydrates or lipids. Shared Features with MPS Disorders: Developmental delay. Organomegaly. Dysostosis multiplex. Progressive Conditions: All are...

    • Type: Article
    • Author: Editor
    • Category: Home

  2. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    The Diagnosis of Rett Syndrome (RTT) Introduction Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements....

    • Type: Article
    • Author: Editor
    • Category: Home

  3. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    Fragile X Syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, is now a well-recognized condition. However, its discovery and understanding were long journeys marked by scientific curiosity, serendipity,...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  4. Neurometabolic Disordershttps://cnke.org/articles/knowledge-maps/209

    Disorders of Carbohydrate Metabolism Glycogen Storage Diseases (GSDs): Type I (Von Gierke disease) Type II (Pompe disease) Type III (Cori-Forbes disease) Type IV (Andersen disease) Type V (McArdle disease) Type VI (Hers disease) Type VII (Tarui...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles (open)

  5. Muscle Conditions with Myotonia or Myotonia-like Symptomshttps://cnke.org/articles/knowledge-maps/230

    Muscle Conditions with Myotonia or Myotonia-like Symptoms Clinical and Electrical Myotonia Conditions where both clinical symptoms of myotonia (delayed muscle relaxation after contraction) and electrical myotonia (diagnosed via EMG) are present:...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps

  6. Bromideshttps://cnke.org/articles/bromides

    Introduction Nature and Origin: Bromide is an inorganic ion similar to chloride. Naturally present in the environment, especially in seawater (approximately 65 mg/L). Found in significant amounts in human blood due to seafood consumption. Historical...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 41 - 46 of 46