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38 results
  1. Amish Lethal Microcephaly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1365
    ... pathogenic variant in WDFY3 [ Kadir et al 2016 ]. Alpha-ketoglutarate. Elevated levels of urinary alpha-ketoglutarate may also be seen in individuals with pathogenic ...
  2. pdfTermsMovingFrom2018SCRsto2019Descriptors.pdf 
    https://www.nlm.nih.gov/...msMovingFrom2018SCRsto2019Descriptors.pdf
    ... 2-ketoglutaric acid EntryTerm 2-oxoglutaric acid EntryTerm alpha-ketoglutaric acid, calcium salt (2:1) EntryTerm Precocious puberty, male ... dianhydrogalactitol SCR C000623809 Macacine alphaherpesvirus 1 SCR C029743 alpha-ketoglutaric acid SCR C029743 alpha-ketoglutaric acid SCR C029743 alpha- ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric ... disease</synonym><synonym >Familial hyperlysinemia</synonym><synonym ... disease</synonym><synonym >Saccharopine dehydrogenase deficiency ...
  4. pdf2018MeShTreeHierarchy.pdf 
    https://www.nlm.nih.gov/mesh/2018/download/2018MeShTreeHierarchy.pdf
    ... D08.811.074.062.750...........................................AlkB Homolog 2, Alpha-Ketoglutarate-Dependent Dioxygenase D08.811.074.062.875...........................................AlkB ...
  5. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Homolog 1, Histone H2a Dioxygenase AlkB Homolog 2, Alpha-Ketoglutarate-Dependent AlkB Homolog 3, Alpha-Ketoglutarate-Dependent AlkB Homolog 5, RNA Demethylase Alpha-Ketoglutarate- ...
  6. SLC25A19 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc25a19
    ... of a group of mitochondrial enzymes called the alpha-ketoglutarate dehydrogenase complex. This complex acts on a compound called alpha-ketoglutaric acid as part of an important series of reactions ...
  7. pdf2017NewMeshHeadingsSingleColumnWithScopeAnTree.pdf 
    https://www.nlm.nih.gov/...shHeadingsSingleColumnWithScopeAnTree.pdf
    ... N05.700.075 AlkB Enzymes A family of alpha- KETOGLUTARIC ACID and Fe(II)-dependent dioxygenases that are homologous ... 682.690.416.139.500 AlkB Homolog 2, Alpha-Ketoglutarate-Dependent Dioxygenase A dioxygenase and alkylation repair homolog ...
  8. Amish lethal microcephaly: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly
    ... or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric ... the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into ...
  9. BOLA3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bola3
    ... mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex. This modification is also critical to ... of complex I, II, or III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the glycine cleavage system. Affected infants ...
  10. NFU1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nfu1
    ... mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex. This modification is also critical to ... of complex I, II, or III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the glycine cleavage system. Affected infants ...
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