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Results 1 - 4 of 4 for Inborn aminoacylase deficiency
  1. Aminoacylase 1 deficiency 
    ... C, Omran H, Wevers RA. NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed. 2008 Feb;21(2):138-47. doi: 10.1002/nbm.1170. Citation on PubMed Ferri L, ... Morrone A. Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet. ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  2. ACY1 gene 
    ... Herga S, Perrier JP, Wevers RA, Lissens W. Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. doi: 10.1016/j.bbrc.2005.10.126. Epub 2005 Nov 2. Citation on PubMed
    https://medlineplus.gov/genetics/gene/acy1 - Genetics
  3. Amino Acid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
    https://medlineplus.gov/aminoacidmetabolismdisorders.html - Health Topics
  4. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics