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50 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. ... 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 ...
  3. ... 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 ...
  4. ... occurs in part due to poor bioavailability of ornithine [ Häberle & Rubio ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment ...
  5. ... retinitis pigmentosa: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  6. ... defects, it may be normal. Plasma concentration of ornithine is elevated in ORNT1 deficiency, in which urine homocitrulline is also elevated. Ornithine is not elevated in OTC deficiency. Note: Plasma ...
  7. ... SH, et al. Efficacy of infusion of L-ornithine L-aspartate in cirrhotic patients with portosystemic encephalopathy: ... Z, Qi XS, Fan D, Han G. l-ornithine-l-aspartate for hepatic encephalopathy in patients with ...
  8. ... Z, Shah HA, et al. Efficacy of L-ornithine-L-aspartate as an adjuvant therapy in cirrhotic ... A, Butt AK, Shafqat F, et al. L-ornithine-L-aspartate infusion efficacy in hepatic encephalopathy. Journal ...
  9. ... other_name >OKT deficiency</other_name><other_name >Ornithine aminotransferase deficiency</other_name><other_name >Ornithine keto acid aminotransferase deficiency</other_name><other_name > ...
  10. ... infants who continue to have elevated arginine-to-ornithine ratios and arginine toward the upper limit of ... The biochemical profile includes high levels of arginine, ornithine, and lysine in both blood and urine. The ...
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