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Results 1 - 10 of 36 for Replacement
  1. APP gene 
    ... of all the types, is caused by the replacement of the amino acid glutamic acid with the ... or E22G). The Flemish type is caused by replacement of the amino acid alanine with glycine at ...
    https://medlineplus.gov/genetics/gene/app - Genetics
  2. How are genetic conditions treated or managed?: MedlinePlus Genetics 
    ... specific enzymes, treatments sometimes include dietary changes or replacement of the particular enzyme that is missing. Limiting ... down by the enzyme. In some cases, enzyme replacement therapy can help make up for the enzyme ...
    https://medlineplus.gov/genetics/understanding/consult/treatment - Genetics
  3. Fabry disease 
    ... disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18;138( ... to diagnosis in the novel era of enzyme replacement therapy. J Intern Med. 2004 Jun;255(6): ...
    https://medlineplus.gov/genetics/condition/fabry-disease - Genetics
  4. SCNN1B gene 
    ... short beta subunit protein or result in the replacement of a single protein building block (amino acid) ... gene that cause PHA1 often result in the replacement of a single amino acid in the beta ...
    https://medlineplus.gov/genetics/gene/scnn1b - Genetics
  5. Swyer syndrome 
    ... that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing ... to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  6. IDS gene 
    ... type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation. Biochim Biophys ... recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar;167(3): ...
    https://medlineplus.gov/genetics/gene/ids - Genetics
  7. MPL gene 
    ... an MPL gene mutation that results in the replacement of the amino acid serine with the amino ... with MPL gene mutations that result in the replacement of the amino acid tryptophan at position 515 ...
    https://medlineplus.gov/genetics/gene/mpl - Genetics
  8. What kinds of gene variants are possible?: MedlinePlus Genetics 
    ... in which the nucleotide change results in the replacement of one protein building block (amino acid) with ...
    https://medlineplus.gov/.../mutationsanddisorders/possiblemutations - Genetics
  9. Cherubism 
    ... for the function of cells involved in the replacement of old bone tissue with new bone (bone ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  10. Wolfram syndrome 
    ... Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
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