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65 results
  1. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... acidosis (>10 mmol/L) ↑ alanine, citrulline, lysine, & proline ↓ glutamine Moderate to significant ↑ (>130 µmol/L; peak 860 ... posted live 7 March 2005 (ddv) Original submission References Literature Cited Ahmad A, Kahler SG, Kishnani PS, ...
  2. Hereditary Folate Malabsorption - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1673
    ... proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption. Am J Physiol ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. HRAS-Related Costello Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1507
    ... amino acid residues 12 and 13 and the glutamine at residue 61. Pathogenic missense variants in these ... posted live 2 March 2006 (kg) Original submission References Literature Cited Abe Y, Aoki Y, Kuriyama S, ...
  4. Prothrombin Thrombophilia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1148
    ... defect of 'Prothrombin Amrita': substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  5. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... based on hydrophobic cluster analysis) indicate that the glutamine residues 235 and 340 play key roles in ... posted live 23 March 2000 (gp) Original submission References Published Guidelines / Consensus Statements Belmatoug N, Di Rocco ...
  6. ISCA2-Related Mitochondrial Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481904
    ... Hassnan et al 2015 ]. High lactate, glycine, and glutamine/glutamate peaks may also be seen in brain ... posted live 31 July 2017 (znah) Original submission References Literature Cited Alaimo JT, Besse A, Alston CL, ...
  7. Isolated Sulfite Oxidase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK453433
    ... total creatine ratio and abnormal elevation of lactate, glutamine, and glutamate peaks [ Hoffmann et al 2007 ]. Single- ... posted live 27 March 2017 (psb) Original submission References Literature Cited Basheer SN, Waters PJ, Lam CW, ...
  8. Factor V Leiden Thrombophilia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1368
    ... 1601G>A (p.Arg534Gln) , causes the substitution of glutamine for arginine at the Arg534 APC cleavage site, ... posted live 29 December 1998 (jk) Original submission References Literature Cited ACOG. ACOG Committee Opinion No. 556: ...
  9. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... person w/LS; 2 w/FILA Liver dysfunction ↑ glutamine & proline, ↓ levels of lysine & BCAAs & normal glycine (unlike ... posted live 17 February 2015 (sr) Original submission References Literature Cited Abrams AJ, Hufnagel RB, Rebelo A, ...
  10. Excluded Studies - Interventions for Feeding and Nutrition in Cerebral Palsy - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK132432
    ... et al. Monitoring the clinical introduction of a glutamine and antioxidant solution in critically ill trauma and ... of very low-birth-weight infants after enteral glutamine supplementation in the neonatal period. Acta Paediatr. 2008 ...
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