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Results 21 - 23 of 23 for Inborn genetic diseases
  1. CHILD syndrome 
    ... are a well-known risk factor for heart disease, the body needs some cholesterol to develop and ... PubMed Porter FD. Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 ...
    https://medlineplus.gov/genetics/condition/child-syndrome - Genetics
  2. Guanidinoacetate methyltransferase deficiency 
    ... steps to newborn screening for a treatable neurometabolic disease. Mol Genet Metab. 2012 Nov;107(3):433- ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  3. Beta-propeller protein-associated neurodegeneration 
    ... Static encephalopathy of childhood with neurodegeneration in adulthood ... GF, Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb;139( ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
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