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518 results
  1. Dihydrolipoamide Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK220444
    ... 3.5 g/kg/day as BCAA-free amino acids; isoleucine and valine supplements; maintain ... seizures. For hepatic presentation: removal or treatment ...
  2. FH Tumor Predisposition Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1252
    ... provide an additional approach for therapeutic investigation (see Therapies ... 510-amino acid mitochondrial isoform, protein variant designations may be based ...
  3. Cystic Fibrosis | CF | Cystic Fibrosis Symptoms | MedlinePlus 
    https://medlineplus.gov/cysticfibrosis.html
    ... Cystic Fibrosis (National Institutes of Health) ... Cystic Fibrosis -- ...
  4. PRPS1 gene 
    https://medlineplus.gov/genetics/gene/prps1
    ... cause Arts syndrome change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. The mutations ... superactivity) have been identified. These mutations change single amino acids in the PRPP synthetase 1 enzyme, resulting in ...
  5. Aromatic L-Amino Acid Decarboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK595821
    ... V. Successful pregnancy in a patient with L-amino acid decarboxylase deficiency: therapeutic management and clinical outcome. Mov Disord Clin Pract. ... JB, Leonard J, Larson P, Bankiewicz KS. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of ...
  6. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... splice site. OFD1-1 is a 1,012-amino acid protein (reference sequence NP_003602.1 ); OFD1-2 is a 367-amino acid protein. The two proteins share the first 351 ...
  7. Nutrition in Cancer Care (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65854
    ... trials are essential to determine the best possible therapies. References Grant BL: Academy of Nutrition and Dietetics Pocket ... advanced solid tumor. Oral glutamine Glutamine is an amino ... and radiation therapy often damage these cells, causing mucositis and diarrhea, ...
  8. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... questions arise (e.g., family planning). EEA = essential amino acids; OT = occupational therapy; PT = physical therapy 1. This should prompt assessment of (at a minimum) plasma ammonia level, plasma amino acid analysis, and other metabolic labs (electrolytes, glucose level, ...
  9. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... fluids, hydration, and correction of metabolic acidosis; pharmacologic therapies (amino acid supplements, cofactors, and vitamins) may improve some findings ...
  10. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... nitrogen release. Daily to 2x-wkly quantitative plasma amino acid analysis should guide nutritional therapy. Goal: to keep essential amino acid levels in ...
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