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Results 1 - 10 of 10 for Glycine encephalopathy 1
  1. Nonketotic hyperglycinemia 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov GLYCINE ENCEPHALOPATHY 1; GCE1 PubMed Aliefendioglu D, Tana Aslan Ay, Coskun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two case ... encephalopathy (nonketotic hyperglycinaemia) : review and update. J Inherit ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  2. GLDC gene 
    ... the GLDC gene in 28 unrelated patients with glycine encephalopathy. J Inherit Metab Dis. 2006 Feb;29(1):135-42. doi: 10.1007/s10545-006-0202- ...
    https://medlineplus.gov/genetics/gene/gldc - Genetics
  3. NFU1 gene 
    ... III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the ... of an altered NFU-1 protein that is likely broken down quickly. Although ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  4. BOLA3 gene 
    ... ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and ... protein 3 bolA-like protein 3 isoform 1 bolA-like protein 3 isoform 2 BOLA3_HUMAN ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  5. AMT gene 
    ... with T-protein deficiency as a cause of glycine encephalopathy (NKH). Mol Genet Metab. 2003 Aug;79(4): ...
    https://medlineplus.gov/genetics/gene/amt - Genetics
  6. BCS1L gene 
    ... causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. doi: 10.1038/ng706. Citation on ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  7. SERPINI1 gene 
    ... MS, Shaw CM, Lacbawan F, Lawrence DA. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999 Dec;155(6):1901-13. doi: 10.1016/S0002-9440(10)65510-1. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
  8. Multiple mitochondrial dysfunctions syndrome 
    ... clusters, including those involved in energy production and glycine breakdown, ... encephalopathy, and other signs and symptoms of multiple mitochondrial ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  9. GRIN2A gene 
    ... ion channels; when brain chemicals called glutamate and glycine attach to the receptor, a channel opens, allowing ... seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  10. GRIN2B gene 
    ... ion channels. When brain chemicals called glutamate and glycine attach to the receptor, a channel opens, allowing ... WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences ...
    https://medlineplus.gov/genetics/gene/grin2b - Genetics