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Results 1 - 5 of 5 for Alfadhel syndrome
  1. CEP290 gene 
    ... EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. Asparagine synthetase deficiency 
    ... Registry: Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD PubMed Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  3. Biotin-thiamine-responsive basal ganglia disease 
    ... responsive basal ganglia disease BTBGD Thiamine metabolism dysfunction syndrome 2 Thiamine transporter-2 deficiency Thiamine-responsive encephalopathy THMD2 ... Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  4. SLC19A3 gene 
    ... THIAMINE TRANSPORTER), MEMBER 3; SLC19A3 NCBI Gene ClinVar Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al ... a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
  5. Expert reviewers 
    ... Kokko Connective Tissue Gene Tests Allentown, Pennsylvania Majid Alfadhel King Saud Bin Abdulaziz University for Health Sciences ... Baltimore, Maryland Junko Oshima International Registry of Werner Syndrome University of Washington Seattle, Washington Harry Ostrer Albert ...
    https://medlineplus.gov/about/general/genetics/expertreviewers -