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Results 1 - 10 of 853 for e -"2-octenoic" acid
  1. LIPA gene 
    ... M, Calandra S, Hamilton J, Eagleton T, Ros E. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia ...
    https://medlineplus.gov/genetics/gene/lipa - Genetics
  2. Lysosomal acid lipase deficiency 
    ... M, Calandra S, Hamilton J, Eagleton T, Ros E. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  3. HBB gene 
    ... be as severe as sickle cell anemia. Hemoglobin E occurs when glutamic acid is replaced with lysine at position 26 in beta-globin (written as Glu26Lys or E26K). In some cases, hemoglobin E is present with hemoglobin S. In these cases, ...
    https://medlineplus.gov/genetics/gene/hbb - Genetics
  4. ASAH1 gene 
    ... Citation on PubMed Lucki NC, Bandyopadhyay S, Wang E, Merrill AH, Sewer MB. Acid ceramidase (ASAH1) is a global regulator of steroidogenic ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  5. Congenital bile acid synthesis defect type 1 
    ... fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile ... 1 National Organization for Rare Disorders (NORD) BILE ACID SYNTHESIS DEFECT, ... PubMed Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  6. Epidermolytic hyperkeratosis 
    ... HC, Lee JH, Park JK, Wu K, Lee ES, Steinert PM. A novel glutamic acid to aspartic acid mutation near the end of ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  7. KRT1 gene 
    ... HC, Lee JH, Park JK, Wu K, Lee ES, Steinert PM. A novel glutamic acid to aspartic acid mutation near the end of ...
    https://medlineplus.gov/genetics/gene/krt1 - Genetics
  8. Congenital bile acid synthesis defect type 2 
    ... fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  9. ALAD gene 
    ... 17744-7. Citation on PubMed Kelada SN, Shelton E, Kaufmann RB, Khoury MJ. Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review. ...
    https://medlineplus.gov/genetics/gene/alad - Genetics
  10. Succinate-CoA ligase deficiency 
    ... PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 2007 Mar; ...
    https://medlineplus.gov/.../succinate-coa-ligase-deficiency - Genetics
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