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886
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genetic acid
- The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments called lysosomes, which ...
- The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, ...
- ... 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 ...
- ... 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 ...
- The SMPD1 gene provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are small compartments in ...
- The CNBP gene provides instructions for making a protein called CCHC-type zinc finger nucleic acid binding protein. This protein has seven regions, called ...
- ... 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) ...
- ... article on PubMed Central Gregory A, Hayflick SJ. Genetics of ... SJ. Fatty Acid Hydroxylase-Associated Neurodegeneration. 2011 Jun 28 [updated 2018 ...
- ... 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
- ... J, Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and ...