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Results 1 - 10 of 49 for Abnormal metabolism
  1. SRD5A3-congenital disorder of glycosylation 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov;133(11):3210-20. doi: ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  2. Carnitine palmitoyltransferase I deficiency 
    ... and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of CPT I deficiency. Conditions that disrupt the metabolism of fatty acids, including CPT I deficiency, are ...
    https://medlineplus.gov/...rnitine-palmitoyltransferase-i-deficiency - Genetics
  3. Barth syndrome 
    Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  4. Riboflavin transporter deficiency neuronopathy 
    ... and FMN are also involved in the breakdown (metabolism) of carbohydrates, fats, and proteins.Mutations in the SLC52A2 or SLC52A3 gene lead to an abnormal riboflavin transporter protein with impaired ability to transport ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  5. Warfarin resistance 
    ... rapid metabolizers" of warfarin. The severity of these abnormal processes determines whether the ... Many genes are involved in the metabolism of warfarin and in determining the drug's ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
  6. Surfactant dysfunction 
    ... lung disease due to surfactant deficiency Pulmonary surfactant metabolism dysfunction Surfactant metabolism deficiency Genetic Testing Registry: Surfactant ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  7. Clopidogrel resistance 
    ... treated with the drug. CYP2C19-related poor drug metabolism Poor metabolism of clopidogrel Resistance to clopidogrel Genetic Testing Registry: ... Organization for Rare Disorders (NORD) ClinicalTrials.gov DRUG METABOLISM, POOR, CYP2C19-RELATED PubMed Hirota T, Eguchi S, ...
    https://medlineplus.gov/genetics/condition/clopidogrel-resistance - Genetics
  8. 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
  9. 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
  10. Cerebrotendinous xanthomatosis 
    ... PubMed Bhattacharyya AK, Lin DS, Connor WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
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