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

Tuesday, 07 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 lysosomal is required, and storage is required, and disorders is required, the following 15 results were found.

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

    I) Arginase deficiency (Argininemia) Secondary urea cycle disorders: N-acetylglutamate synthase (NAGS) deficiency Lysosomal Storage Disorders Mucopolysaccharidoses (MPS): Hurler syndrome (MPS I) Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III)...

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

  2. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    Diseases Associated with Chorea Ataxia-Telangiectasia and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies....

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

  3. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...

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

  4. Lysosomal Storage Disorderhttps://cnke.org/topics/lysosomal-storage-disorder

    • Type: Tag
    • Author: Editor

  5. Investigating Lysosomal disordershttps://cnke.org/articles/163

    Lysosomal enzyme deficiencies may be sought in serum or plasma, in leukocytes (white cell pellet) or in cultured fibroblasts. Although it is evident that there is great variation in the severity of the neurological disorders which may result from a...

    • Type: Article
    • Author: ICNA
    • Category: Home

  6. Investigations in Lysosomal Disordershttps://cnke.org/articles/467

    1. Overview of Lysosomal Enzyme Deficiencies Lysosomal enzyme activity can be assessed in: Serum or plasma Leukocytes (white cell pellet) Cultured fibroblasts Neurological disorders associated with lysosomal enzyme deficiencies show variable severity....

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

  7. Lysosomal Storage Disordershttps://cnke.org/articles/477

    Sphingolipidoses Gangliosidoses GM1 gangliosidoses GM2 gangliosidoses: Sandhoff disease Tay–Sachs disease AB variant From globoside Fabry's disease From sphingomyelin Niemann–Pick disease (SMPD1-associated, type C) Gaucher's disease From sulfatide...

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

  8. cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15

    The Cherry Red Spot refers to the appearance of a red-tinted region at the center of the macula surrounded by retinal opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential...

    • Type: Article
    • Author: Editor
    • Category: Image of the Week

  9. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    He was instrumental in identifying the changing patterns of cerebral palsy, as well as pioneering studies in lysosomal storage disorders such as Krabbe disease and metachromatic leukodystrophy. His insights and leadership have left an indelible mark on...

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

  10. Pompe Diseasehttps://cnke.org/articles/470

    Overview Definition: Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes. Pathophysiology: Lysosome rupture leads to tissue damage. Primarily affects skeletal and cardiac...

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

  11. Gaucher Diseasehttps://cnke.org/articles/471

    Overview Most prevalent lysosomal storage disorder. Elevated incidence in Ashkenazi Jews (6% carrier frequency). Autosomal recessive inborn error of metabolism. Caused by mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity....

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

  12. The Cherry Red Spothttps://cnke.org/articles/170

    Introduction In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder. Term first used in 1887 by Bernard Sachs in a paper on “arrested...

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

  13. 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

  14. Mucopolysaccharidoses (MPS)https://cnke.org/articles/468

    Overview Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to enzyme deficiencies impairing degradation of glycosaminoglycans (GAGs), also known as mucopolysaccharides. GAGs are complex sugar molecules found in connective tissues, skin,...

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

  15. Fabry Diseasehttps://cnke.org/articles/472

    Overview Fabry disease: X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of alpha-galactosidase A leads to accumulation of globotriaosylceramide (GL3) in tissues. Results in multi-organ disease with variable onset...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 1 - 15 of 15