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17 results
  1. Alexander Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1172
    ... me) Comprehensive update posted live 5 May 2003 (cd,jrg) Revision: molecular ... sporadic adult Alexander disease presenting with acute onset, remission and relapse. J ...
  2. Evidence for the recognition of coeliac disease - Coeliac Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK343379
    ... duplicates of studies considered in the previous coeliac disease guideline (CG86). ... studies ( Canavan et al., 2011 ; Duerksen et al., 2010 ; Godfrey ...
  3. List of Excluded Studies - Diagnosis of Celiac Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344449
    ... free article : PMC1773501 ] [ PubMed : 12477758 ] Not About Celiac Disease (CD) - N=12 1. Agostoni M, Fanti L, Gemma ... 1 Not Human – N=1 Not About Celiac Disease (CD) - N=12 Not About Diagnostic Tests - N=150 ...
  4. Krabbe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1238
    ... psychosis. Biallelic pathogenic variants in HEXA are causative. Canavan disease . Neonatal/infantile (severe) Canavan disease is characterized by evidence of developmental delays by ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/canavan-disease</url><title >Canavan disease</title><other_names ><other_name >ACY2 deficiency</other_ ...
  6. HEXA Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1218
    ... Distinguishing the Disorder from Acute Infantile TSD ASPA Canavan disease – ≤6 mos Macrocephaly, head lag, hypotonia, seizures Leukoencephalopathy, ↑ ... Distinguishing the Disorder from Subacute Juvenile TSD ASPA Canavan disease – ≤6 mos Macrocephaly, head lag, hypotonia, seizures Leukoencephalopathy & ↑ ...
  7. Sandhoff Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK579484
    ... Comments Not observed in acute infantile SD ASPA Canavan disease ≤6 mos Macrocephaly, head lag, hypotonia, seizures Leukoencephalopathy ... Comment Not observed in subacute juvenile SD ASPA Canavan disease ≤6 mos Macrocephaly, head lag, hypotonia, seizures Leukoencephalopathy ...
  8. GLB1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK164500
    ... it from type I (infantile) GM1 gangliosidosis ASPA Canavan disease – ≤6 mos Macrocephaly, head lag, hypotonia, seizures Leukoencephalopathy, ↑ ... it from late-infantile & juvenile GM1 gangliosidosis ASPA Canavan disease – ≤6 mos Macrocephaly, head lag, hypotonia, seizures Leukoencephalopathy, ↑ ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... NP_000029 ​.2 Ukaegbu et al [2021] ASPA Canavan disease AR c.854A>C p.Glu285Ala 83% 1/ ... Balamurugan K, Petrosky A, Michals K, Matalon R. Canavan disease: mutations among Jewish and non-Jewish patients. Am ...
  10. Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1179
    ... variants, PLP1 -related disorders , Krabbe disease , Alexander disease , Canavan disease , congenital muscular dystrophy with merosin deficiency (see LAMA2 - ... Ophthalmol. 2021] Mitochondrial Neurogastrointestinal Encephalopathy ... Farahvash A, Kassardjian CD, Micieli JA. Case Rep Ophthalmol. 2021 Jan-Apr; ...
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