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Results 1 - 10 of 12 for "Late-infantile" neuronal ceroid lipofuscinosis
  1. ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Late-infantile neuronal ceroid lipofuscinosis On this page: Description Genetic changes Inheritance Diagnosis ...
  2. Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells. There are three ... Elsevier; 2011:chap 592. Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. In: Pagon RA, Adam MP, Bird TD, eds. ...
  3. Degenerative Nerve Diseases (National Library of Medicine)  
    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. ...
  4. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... syndrome Hurler syndrome I-cell disease Krabbe disease Late Infantile Neuronal Ceroid Lipofuscinosis Maroteaux-Lamy syndrome Metachromatic leukodystrophy Morquio syndrome Mucolipidosis ...
  5. Genetics Home Reference: Kufs disease From the National Institutes of Health (National Library of Medicine)  
    ... one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. ... disease and may include treatment providers. Gene Review: Neuronal Ceroid-Lipofuscinoses Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis Genetic ...
  6. Genetics Home Reference: Northern epilepsy From the National Institutes of Health (National Library of Medicine)  
    ... one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. ... epilepsy and may include treatment providers. Gene Review: Neuronal Ceroid-Lipofuscinoses Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern ...
  7. Genetics Home Reference: Juvenile Batten disease From the National Institutes of Health (National Library of Medicine)  
    ... one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system ... and Research Association: Centers of Excellence Gene Review: Neuronal Ceroid-Lipofuscinoses Genetic Testing Registry: Juvenile neuronal ceroid lipofuscinosis NYU ...
  8. What Is Batten Disease (Batten Disease Support and Research Association)  
    ... common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCL). Although Batten disease is usually regarded ... to top ↑  The History of Neuronal Ceroid ... delineated the Late Infantile form of NCL. However, all forms were still ...
  9. ... MT, Caillaud C. Disorders of sphingolipid metabolism and neuronal ceroid-lipofuscinoses. In: Saudubray JM, van den Berghe G, Walter ...
  10. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
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