Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 191 for e -"2-butenoic" acid
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Combined malonic and methylmalonic aciduria 
    ... F, Sauer S, Hinz A, Wolf NI, Mayatepek E, Hoffmann GF, Smeitink JA, Okun JG. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  7. Purine nucleoside phosphorylase deficiency 
    ... 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/...urine-nucleoside-phosphorylase-deficiency - Genetics
  8. Farber lipogranulomatosis 
    ... FARBER LIPOGRANULOMATOSIS; FRBRL PubMed Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  9. Mitochondrial trifunctional protein deficiency 
    ... 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/...hondrial-trifunctional-protein-deficiency - Genetics
  10. Niemann-Pick disease 
    ... 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/condition/niemann-pick-disease - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next