Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
69 results
  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. 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 ...
  4. 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 ...
  5. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... quality control, and dynamics; Pyruvate dehydrogenase (see Primary Pyruvate ... Reference Neurologic 1 Other Laboratory Findings Complex I-deficient ...
  6. Biotin-Thiamine-Responsive Basal Ganglia Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169615
    ... binds to pyruvate dehydrogenase and stimulates conversion of pyruvate to acetyl-CoA; A ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  7. Creatine Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3794
    ... M. Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to ... and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency ...
  8. 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 [ ...
  9. References - Suspected neurological conditions - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542063
    ... Childhood stroke: Results of 130 children from a reference center in central anatolia, ... and pyruvate kinase in Duchenne muscular dystrophy carrier detection. Muscle ...
  10. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency</url><title >Pyruvate carboxylase deficiency</title>< ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · next · last