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Results 1 - 10 of 21 for Inborn genetic diseases
  1. Newborn screening tests 
    Centers for Disease Control and Prevention website. Newborn ... Fanaroff AA, Fanaroff JM, eds. Klaus and Fanaroff's Care of the ...
    https://medlineplus.gov/ency/article/007257.htm - Medical Encyclopedia
  2. Gaucher disease 
    ... chap 104. Krasnewich DM, Sidransky E. Lysosomal storage diseases. ... Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022: ...
    https://medlineplus.gov/ency/article/000564.htm - Medical Encyclopedia
  3. Acid mucopolysaccharides 
    Kumar V, Abbas AK, Aster JC. Genetic disorders. In: Kumar V, Abbas AK, ... Genetics and Genomics . 16th ed. Philadelphia, PA: Elsevier; ...
    https://medlineplus.gov/ency/article/003368.htm - Medical Encyclopedia
  4. Metachromatic leukodystrophy 
    ... the age at diagnosis, the more quickly the disease progresses.
    https://medlineplus.gov/ency/article/001205.htm - Medical Encyclopedia
  5. Skeletal limb abnormalities 
    ... be due to any of the following: Cancer Genetic diseases and chromosomal abnormalities, including Marfan syndrome , Down syndrome , ... Elsevier; 2023:chap 22. McCandless SE, Kripps KA. Genetics, inborn errors of metabolism, and newborn screening. In: Fanaroff ...
    https://medlineplus.gov/ency/article/003170.htm - Medical Encyclopedia
  6. Menkes disease 
    ... for Rare Disorders -- rarediseases.org/rare-diseases/menkes-disease/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih. ...
    https://medlineplus.gov/ency/article/001160.htm - Medical Encyclopedia
  7. Mucopolysaccharidosis type II 
    ... org/rare-diseases/mucopolysaccharidosis-type-ii-2/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6675/ ...
    https://medlineplus.gov/ency/article/001203.htm - Medical Encyclopedia
  8. Mucopolysaccharidosis type I 
    ... rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/10335/ ...
    https://medlineplus.gov/ency/article/001204.htm - Medical Encyclopedia
  9. Mucopolysaccharidosis type III 
    ... rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/3807/ ...
    https://medlineplus.gov/ency/article/001210.htm - Medical Encyclopedia
  10. Mucopolysaccharidosis type IV 
    ... org/gard-rare-disease/mucopolysaccharidosis-type-iv/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/12562/ ...
    https://medlineplus.gov/ency/article/001206.htm - Medical Encyclopedia
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