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Results 1 - 10 of 886 for genetic acid
  1. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments called lysosomes, which ...
  2. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, ...
  3. ... Gaucher disease change single protein building blocks (amino acids) in beta-glucocerebrosidase, altering the structure of the enzyme and preventing it from working normally. Other mutations delete or insert genetic material in the GBA gene or lead to ...
  4. ... type of mutation in the RERE gene. Additional genetic factors that have not been identified, ... ARG arginine-glutamic acid dipeptide (RE) repeats arginine-glutamic acid repeats-encoding ...
  5. The SMPD1 gene provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are small compartments in ...
  6. The CNBP gene provides instructions for making a protein called CCHC-type zinc finger nucleic acid binding protein. This protein has seven regions, called ...
  7. ... other studies have not supported these findings. Many genetic and environmental factors are believed to contribute to these complex conditions. AADC aromatic L-amino acid decarboxylase dopa decarboxylase (aromatic L-amino acid decarboxylase) ...
  8. ... article on PubMed Central Gregory A, Hayflick SJ. Genetics of ... SJ. Fatty Acid Hydroxylase-Associated Neurodegeneration. 2011 Jun 28 [updated 2018 ...
  9. ... Sexton MJ, Fowler BA. Lead and delta-aminolevulinic acid dehydratase polymorphism: where does it lead? A meta-analysis. Environ Health Perspect. 2007 Jan;115(1):35-41. doi: 10.1289/ehp.9448. Citation on PubMed or Free article on PubMed Central
  10. ... J, Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and ...
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