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Results 1 - 3 of 3 for Neurometabolic disease
Did you mean "neuro metabolic" disease?
  1. Guanidinoacetate methyltransferase deficiency 
    ... first steps to newborn screening for a treatable neurometabolic disease. Mol Genet Metab. 2012 Nov;107(3):433- ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  2. Sandhoff disease 
    ... P. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. Orphanet J Rare ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  3. HEXB gene 
    ... P. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. Orphanet J Rare ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics