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Results 1 - 10 of 33 for Acid Base Disorders
  1. CA5A gene 
    ... production. Insufficient bicarbonate results in impaired control of acid-base ... in this disorder. Studies suggest that a related enzyme produced from ...
    https://medlineplus.gov/genetics/gene/ca5a - Genetics
  2. LIPA gene 
    ... S, Hamilton J, Eagleton T, Ros E. Lysosomal acid lipase deficiency--an ... of Wolman disease and cholesteryl ester storage disease. Mol Genet Metab. ...
    https://medlineplus.gov/genetics/gene/lipa - Genetics
  3. MUTYH gene 
    ... amino acid glycine with the amino acid aspartic acid at position 396 (written as Gly396Asp or G396D). More About This Health Condition ... Cheadle JP, Sampson JR. Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet. 2003 Oct 15;12 Spec ...
    https://medlineplus.gov/genetics/gene/mutyh - Genetics
  4. NOG gene 
    ... About This Health Condition Several other bone-related ... at the joint at the base of the digit. Other signs and symptoms include ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  5. DBT gene 
    ... chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) E2 component of branched chain keto acid dehydrogenase ...
    https://medlineplus.gov/genetics/gene/dbt - Genetics
  6. HSD3B7 gene 
    ... deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab. 2003 Apr;88(4):1833-41. doi: 10.1210/jc.2002-021580. Citation on PubMed ... Synthesis of atypical bile acids for use as investigative tools for the genetic ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  7. GNAT2 gene 
    ... Baumert U, Loyer M, Koenekoop RK. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  8. SLC26A2 gene 
    ... mutations deletes a single protein building block (amino acid) at position 341 in the SLC26A2 protein. This genetic change is written as Val341del. The other mutation deletes three DNA building blocks (base pairs) at a specific place in the SLC26A2 ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  9. IFT80 gene 
    ... IFT80 gene have since been associated with this disorder. Most of these mutations change single protein building blocks (amino acids) in the IFT80 protein. IFT complex B made ...
    https://medlineplus.gov/genetics/gene/ift80 - Genetics
  10. SPTLC1 gene 
    ... MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition hLCB1 LBC1 LCB1 long chain base biosynthesis protein 1 serine C-palmitoyltransferase serine palmitoyltransferase ...
    https://medlineplus.gov/genetics/gene/sptlc1 - Genetics
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