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  1. HPRT1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1149
    ... PubMed : 10760551 ] Willers I. Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome. Prenat Diagn. 2004; 24 :737–40. [ PubMed : 15386453 ] ...
  2. Excluded Studies - Cerebral palsy in under 25s: assessment and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK533212
    ... cases reported. Mitchell, G., McInness, R. R., Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation, Canadian Medical Association Journal, 130, ...
  3. Introduction - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355392
    ... the extent that almost everyone with that specific diagnosis shows that specific behaviour. An example of this is Lesch–Nyhan syndrome, an X-linked metabolic disorder resulting in mild ...
  4. NKX2-1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185066
    ... considered in the differential diagnosis include: Neurometabolic disorders ( Lesch-Nyhan disease , lysosomal storage disorders, amino acid deficiency disorders, Leigh syndrome ) Mitochondrial disorders Table 3b. Acquired Disorders in the Differential Diagnosis of NKX2-1 -Related Disorders View in own ...
  5. Lesch-Nyhan syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome
    ... to have Lesch-Nyhan variant. The signs and symptoms of Lesch-Nyhan variant are often milder than those of Lesch-Nyhan syndrome and do not include self-injury. Learn more ...
  6. Huntington Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1305
    ... associated neurodegeneration (previously known as Hallervorden-Spatz syndrome), Lesch-Nyhan ... Following Initial Diagnosis To establish the extent of disease and needs ...
  7. Amino Acid Metabolism Disorders 
    https://medlineplus.gov/aminoacidmetabolismdisorders.html
    Disorders like phenylketonuria (PKU) and maple syrup urine disease cause problems with how your body uses proteins. Learn more about them. ... Metabolism is the process ...
  8. Lesch-Nyhan syndrome 
    https://medlineplus.gov/ency/article/001655.htm
    No specific treatment exists for Lesch-Nyhan syndrome. Medicine for ... Phenobarbital Haloperidol Self-harm can be reduced by removal of teeth or ...
  9. Phosphoribosylpyrophosphate Synthetase Superactivity - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1973
    ... oxidase inhibitor. Note: By analogy to individuals with Lesch-Nyhan ... If residual symptoms of urolithiasis occur in PRS superactivity despite the ...
  10. Metabolic Disorders 
    https://medlineplus.gov/metabolicdisorders.html
    ... Start Here Metabolism (Nemours Foundation) Also in Spanish ... Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke) What ...
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