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Results 1 - 10 of 21 for Infantile neuronal ceroid lipofuscinosis
  1. CLN1 disease 
    ... symptoms of the condition. CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  2. CLN2 disease 
    ... Jansky-Bielschowsky disease Late-infantile Batten disease Late-infantile neuronal ceroid lipofuscinosis LINCL Neuronal ceroid lipofuscinosis, late-infantile Genetic Testing ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  3. CLN8 disease 
    ... confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. ... SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  4. CLN7 disease 
    ... M, Iliescu C. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the ... MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  5. PPT1 gene 
    ... Cooper JD, Sands MS. Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim Biophys Acta. 2013 Nov; ... Grosso S, Piemonte F, Santorelli FM. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. Pediatr Neurol. 2009 Apr; ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  6. CLN5 disease 
    ... and symptoms of the condition. Finnish variant late infantile neuronal ceroid lipofuscinosis Finnish vLINCL Jansky-Bielschowsky disease Late-infantile neuronal ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  7. Neuronal ceroid lipofuscinoses (NCL) 
    Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down ... Kufs or Parry disease) Juvenile (Batten disease) Late infantile (Jansky-Bielschowsky disease)
    https://medlineplus.gov/ency/article/001613.htm - Medical Encyclopedia
  8. CLN8 gene 
    ... Mitchell WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic ... confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  9. CLN6 gene 
    ... N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  10. TPP1 gene 
    ... provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6;284(6): ... in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May; ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
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