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140 results
  1. ... ucdfamily.org National Library of Medicine Genetics Home Reference Ornithine translocase deficiency National Urea Cycle Disorders Foundation Phone: ... Specific Databases HGMD ClinVar SLC25A15 13q14 ​.11 Mitochondrial ornithine ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. ... PubMed Catalog of Genes and Diseases from OMIM ORNITHINE AMINOTRANSFERASE; OAT Gene and Variant Databases NCBI Gene ClinVar References Mashima YG, Weleber RG, Kennaway NG, Inana G. ...
  3. ... PubMed Catalog of Genes and Diseases from OMIM ORNITHINE CARBAMOYLTRANSFERASE; OTC Gene and Variant Databases NCBI Gene ClinVar References Ah Mew N, Simpson KL, Gropman AL, Lanpher ...
  4. ... gov Catalog of Genes and Diseases from OMIM ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Scientific Articles on PubMed PubMed References Ah Mew N, Simpson KL, Gropman AL, Lanpher ...
  5. ... from OMIM SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15 Gene and Variant Databases NCBI Gene ClinVar References Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz- ...
  6. ... HGMD ClinVar OTC Xp11 ​.4 Ornithine transcarbamylase, mitochondrial Ornithine CarbamoylTransferase (OTC) @ LOVD OTC OTC Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  7. ... Locus-Specific Databases HGMD ClinVar ODC1 2p25 ​.1 Ornithine decarboxylase ODC1 database ODC1 ODC1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  8. ... AND RETINA; GACR Scientific Articles on PubMed PubMed References Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation. J ...
  9. ... occurs in part due to poor bioavailability of ornithine [ Häberle & Rubio ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment ...
  10. ... disorders. Learn more about the gene associated with Ornithine translocase deficiency SLC25A15 Inheritance This condition is inherited ...
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