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223 results
  1. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... click here . National Library of Medicine Genetics Home Reference Pyruvate carboxylase deficiency United Mitochondrial Disease Foundation (UMDF) 8085 ... Locus-Specific Databases HGMD ClinVar PC 11q13 ​.2 Pyruvate carboxylase, ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Pyruvate carboxylase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency
    ... gov Catalog of Genes and Diseases from OMIM PYRUVATE CARBOXYLASE DEFICIENCY Scientific Articles on PubMed PubMed References Carbone MA, MacKay N, Ling M, Cole DE, ...
  3. Pyruvate dehydrogenase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency
    ... ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD Scientific Articles on PubMed PubMed References Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase ...
  4. PDHX gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pdhx
    ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX Gene and Variant Databases NCBI Gene ClinVar References Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase ...
  5. PC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pc
    ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE CARBOXYLASE; PC Gene and Variant Databases NCBI Gene ClinVar References Carbone MA, MacKay N, Ling M, Cole DE, ...
  6. Pyruvate kinase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency
    ... gov Catalog of Genes and Diseases from OMIM PYRUVATE KINASE DEFICIENCY OF RED CELLS Scientific Articles on PubMed PubMed References Ayi K, Min-Oo G, Serghides L, Crockett ...
  7. PDHB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pdhb
    ... Genes and Diseases from OMIM LEIGH SYNDROME; LS PYRUVATE DEHYDROGENASE E1, SUBUNIT BETA; PDHB Gene and Variant Databases NCBI Gene ClinVar References Brown RM, Head RA, Boubriak II, Leonard JV, ...
  8. PDP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pdp1
    ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE DEHYDROGENASE PHOSPHATASE, CATALYTIC SUBUNIT 1; PDP1 Gene and Variant Databases NCBI Gene ClinVar References Cameron JM, Maj M, Levandovskiy V, Barnett CP, ...
  9. PDHA1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pdha1
    ... from OMIM PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-1; PDHA1 Gene and Variant Databases NCBI Gene ClinVar References Chun K, MacKay N, Petrova-Benedict R, Federico ...
  10. PKLR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pklr
    ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR Gene and Variant Databases NCBI Gene ClinVar References Ayi K, Min-Oo G, Serghides L, Crockett ...
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