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55 results
  1. Neuronal ceroid lipofuscinoses (NCL) 
    https://medlineplus.gov/ency/article/001613.htm
    ... disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt; Haltia-Santavuori disease; Hagberg-Santavuori disease
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... synonym><synonym >Neuronal ceroid lipofuscinosis, infantile</synonym><synonym >Santavuori-Haltia disease</synonym></synonym-list><db-key-list ><db-key >< ...
  3. CLN1 disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/cln1-disease
    ... Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile Santavuori-Haltia disease Additional Information & Resources Genetic Testing Information Genetic Testing ...
  4. Hexosaminidase A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1218
    ... disease , infantile Gaucher disease , and the infantile form (Santavuori-Haltia disease) and late-infantile form (Bielschowsky-Jansky) of neuronal ... Disease Pastores GM, Hughes DA. GeneReviews®. 1993 Review Neuronal Ceroid-Lipofuscinoses – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY [GeneReviews ® . 1993] ...
  5. Action Myoclonus – Renal Failure Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333437
    ... ion channels, is causative [ Muona et al 2015 ]. Neuronal ceroid-lipofuscinoses ( NCL). In adult NCL (ANCL) (formerly called Kufs ... Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol. 2013; 28 :1101–5. [ PMC ...
  6. POLG-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26471
    ... involvement of cortical gray matter and refractory epilepsy Neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited, neurodegenerative, lysosomal ...
  7. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 549.700 Neurofibromatosis 2 C10.574.500.550 Neuronal Ceroid-Lipofuscinoses C10.574.500.662 Optic Atrophies, Hereditary C10. ... 560.700 Neurofibromatosis 2 C16.320.400.600 Neuronal Ceroid-Lipofuscinoses C16.320.400.630 Optic Atrophies, Hereditary C16. ...
  8. CLN10 disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/cln10-disease
    ... one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). All of these disorders affect the nervous ... 29. Citation on PubMed Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009 Apr;1793(4):697- ...
  9. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Congenita Myotonic Dystrophy Neurofibromatoses Neurofibromatosis 1 Neurofibromatosis 2 Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant Optic ...
  10. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 549.700...........................................Neurofibromatosis 2 C10.574.500.550...........................................Neuronal Ceroid-Lipofuscinoses C10.574.500.662...........................................Optic Atrophies, Hereditary C10. ...
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