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Alfadhel syndrome
- ... 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 ...
- ... 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 ...
