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9 results
  1. Brain Malformations | MedlinePlus 
    https://medlineplus.gov/brainmalformations.html
    ... Facts about Microcephaly (Centers for Disease Control and Prevention) Also in Spanish Hydranencephaly ... (National Library of Medicine) Amish lethal ...
  2. Childhood Liver Cancer Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65790
    ... 90%) die in the first year of life. Aicardi syndrome Aicardi syndrome is presumed to be an X-linked condition ... 6, 2003. [ PubMed : 12939582 ] Kamien BA, Gabbett MT: Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. Am J ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Aicardi syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. ADAR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/adar
    ... well understood. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 30 ADAR gene mutations have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
  5. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... April 2, 2009; Last Update: December 19, 2013. Aicardi Syndrome V Reid Sutton and Ignatia B Van den ... June 30, 2006; Last Update: November 6, 2014. Aicardi-Goutières Syndrome Yanick J Crow. Initial Posting: June 29, 2005; ...
  6. PLP1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1182
    ... et al 1993 , Sistermans et al 1998 ]. Boulloche & Aicardi ... distinct syndromes but are summarized using designations frequently encountered in ...
  7. Tyrosine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1437
    ... Hoffmann et al 2003 , Zafeiriou et al 2009 ]. Prevention of Primary Manifestations As described in Treatment of ... and biallelic TH pathogenic variants have been reported. Prevention of Secondary Complications Additional side effects associated with ...
  8. Pyridoxine-Dependent Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1486
    ... pharmacologic doses. Special education programs should be offered. Prevention of Primary Manifestations The effective treatment of individuals ... epilepticus may develop within days of pyridoxine discontinuation. Prevention of Secondary Complications The overuse of pyridoxine must ...
  9. KCNQ2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK32534
    ... communication techniques can be valuable for many patients. Prevention of Secondary Complications As seizure frequency tends to ... Hahn JS, Papazian O, Martinez YL, Reyes MA, Aicardi J. Bilateral tonic-clonic epileptic seizures in non- ...