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Results 1 - 10 of 1,094 for Formation
  1. Surfactant dysfunction 
    ... addition, SP-B plays a role in the formation of lamellar bodies.Mutations in the SFTPB gene ... protein also appears to be involved in the formation of lamellar bodies.ABCA3 gene mutations, which cause ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  2. Clopidogrel resistance 
    ... drug is typically given to prevent blood clot formation in individuals with a history of stroke; heart ... attack or stroke caused by abnormal blood clot formation; those with stents can develop blood clots (thromboses) ...
    https://medlineplus.gov/genetics/condition/clopidogrel-resistance - Genetics
  3. MMAA gene 
    ... making a protein that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which ... in one of the last steps in AdoCbl formation, the transport of vitamin B12 into mitochondria (specialized ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  4. MMAB gene 
    ... making an enzyme that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which ... type B MMAB_HUMAN Tests of MMAB PubMed METABOLISM OF COBALAMIN ASSOCIATED B; MMAB NCBI Gene ClinVar ...
    https://medlineplus.gov/genetics/gene/mmab - Genetics
  5. MEGDEL syndrome 
    ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  6. 3-methylglutaconyl-CoA hydratase deficiency 
    ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  7. Costeff syndrome 
    ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  8. Dilated cardiomyopathy with ataxia syndrome 
    ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  9. Barth syndrome 
    ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  10. Methylmalonic acidemia with homocystinuria 
    ... Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Nat Commun. 2022 Jan 10;13( ... cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
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