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Results 1 - 10 of 774 for l -"azetidine-2-carboxylic" acid
  1. Aromatic l-amino acid decarboxylase deficiency 
    Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. DDC gene 
    ... DDC gene provides instructions for making the aromatic l-amino acid decarboxylase (AADC) enzyme, which is important in the ... to contribute to these complex conditions. AADC aromatic L-amino acid decarboxylase dopa decarboxylase (aromatic L-amino acid decarboxylase) ...
    https://medlineplus.gov/genetics/gene/ddc - Genetics
  3. SLC7A7 gene 
    ... provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved ... M, Fort J, Gasol E, Pineda M, Feliubadalo L, Chillaron J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda). 2005 Apr;20:112-24. ...
    https://medlineplus.gov/genetics/gene/slc7a7 - Genetics
  4. ACY1 gene 
    ... 1 ACY1D acylase 1 aminoacylase-1 N-acyl-L-amino-acid amidohydrolase Tests of ACY1 PubMed AMINOACYLASE 1; ACY1 NCBI Gene ClinVar Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca ...
    https://medlineplus.gov/genetics/gene/acy1 - Genetics
  5. LPAR6 gene 
    ... LPA receptor 6 LPA-6 LPAR6_HUMAN oleoyl-L-alpha-lysophosphatidic acid receptor P2RY5 P2Y purinoceptor 5 P2Y5 purinergic receptor ...
    https://medlineplus.gov/genetics/gene/lpar6 - Genetics
  6. IDUA gene 
    ... break down a molecule known as unsulfated alpha-L-iduronic acid, which is present in two GAGs called heparan sulfate and dermatan sulfate. Alpha-L-iduronidase is located in lysosomes, compartments within cells ...
    https://medlineplus.gov/genetics/gene/idua - Genetics
  7. ASPA gene 
    ... enzyme breaks down a compound called N-acetyl-L-aspartic acid (NAA) into aspartic acid (an amino acid that ... the amino acid glutamic acid for the amino acid alanine at position 305 of aspartoacylase (written as Ala305Glu or A305E). This mutation also leads to ... PubMed ASPARTOACYLASE; ASPA ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  8. Lysinuric protein intolerance 
    ... provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  9. Canavan disease 
    ... normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  10. IDS gene 
    ... a sulfate from a molecule called sulfated alpha-L-iduronic acid, which is present in two GAGs called heparan ...
    https://medlineplus.gov/genetics/gene/ids - Genetics
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