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  1. Primary Pyruvate Dehydrogenase Complex Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571223
    ... click here . National Library of Medicine Genetics Home Reference Pyruvate Dehydrogenase Deficiency United Mitochondrial Disease Foundation Phone: 888- ... of Family Members of a Proband with Primary Pyruvate Dehydrogenase Complex Deficiency Resources Chapter ... Download Bulk download GeneReviews data from FTP ...
  2. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... Locus-Specific Databases HGMD ClinVar PC 11q13 ​.2 Pyruvate carboxylase, mitochondrial PC database PC PC Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ... 
    Publication: Washington : U.S. G.P.O., 1936-1948
    resource.nlm.nih.gov/8104688X1
    ... some biologically important aldehydes and ketones, with special reference to pyruvic acid and methylglyoxal. Bio- chem. J, Lond, 1932, 26: ...
  4. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... cultured skin fibroblasts; LSS = Leigh syndrome spectrum; PDH = pyruvate dehydrogenase 1. ... Reference Neurologic 1 Laboratory findings AIFM1 <1% Encephalomyopathy w/ ...
  5. Fructose-1,6-Bisphosphatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550349
    ... Lactic acidemia (plasma lactate >2.5 mmol/L; reference range: 0.5-2.2 mmol/L) with possible elevated lactate:pyruvate ratio and hyperalaninemia. Ketosis (individuals with low ketones ...
  6. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... Pompe disease: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  7. Liver Diseases | MedlinePlus 
    https://medlineplus.gov/liverdiseases.html
    ... Liver Diseases (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine) Article: The Impact of the Alternate Mediterranean Diet (aMED) on the Prevention... Article: Pyruvate Kinase M2 Links Metabolism and Epigenetics: A New ...
  8. NLM Digital Collections - Pathology and physiology of burns : 1942-1951 : an annotated bibliography 
    Publication: Washington, D.C. : Armed Forces Medical Library, [1952]
    resource.nlm.nih.gov/60020290R
    ... that the favorable effect on sloughing obtained vith pyruvic acid paste is due more to maceration than to pH. A dry gangrene has been converted to a vet one." 1 reference. Leach, E. H., Peters, R. A., and Rossiter, ...
  9. Creatine Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3794
    ... 2021) Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase ... sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency ...
  10. SLC25A19-Related Thiamine Metabolism Dysfunction - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1365
    ... substitution is a hypomorphic allele. Activity of the pyruvate dehydrogenase and ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
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