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Results 1 - 10 of 42 for Acid Base Disorders
  1. Carbonic anhydrase VA deficiency 
    ... production. Insufficient bicarbonate results in impaired control of acid-base ... with this disorder. Studies suggest that a related enzyme produced from ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  2. 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
  3. Lysosomal acid lipase deficiency 
    ... 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/.../lysosomal-acid-lipase-deficiency - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. Cutis laxa 
    ... Citation on PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  10. CUL3-related neurodevelopmental disorder 
    ... Some affected infants have a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD), which tends to go away after ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
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