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Results 1 - 7 of 7 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. 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
  3. 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
  4. 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
  5. Smith-Magenis syndrome 
    ... syndrome Smith-Magenis syndrome National ... CP, Cao L, Molina J, Kairath P, Young JI, Walz K. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  6. Renpenning syndrome 
    ... term Renpenning syndrome. ... of a protein building block (amino acid) called glutamine in certain other proteins.While the ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  7. Kleefstra syndrome 
    ... these mutations change single protein building blocks (amino acids) in euchromatic histone methyltransferase 1. Others create a ... Affected people typically have no history of the disorder in their family, though they can pass the ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics