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Results 1 - 10 of 660 for e -"2-nonenoic" 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. 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
  3. 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
  4. 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
  5. 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
  6. SUCLA2 gene 
    ... 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/genetics/gene/sucla2 - Genetics
  7. TG gene 
    ... NCBI Gene ClinVar Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y. Amino acid substitutions in the thyroglobulin gene are associated with ...
    https://medlineplus.gov/genetics/gene/tg - Genetics
  8. SMPD1 gene 
    ... RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  9. PNP gene 
    ... PubMed Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A. Purine nucleoside phosphorylase deficiency: a mutation update. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1243-7. doi: 10. ...
    https://medlineplus.gov/genetics/gene/pnp - Genetics
  10. HADHB gene 
    ... KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
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