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Results 1 - 10 of 857 for protein defect
  1. HADHA gene 
    ... Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug ... Ibdah JA. Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. JAMA. 2002 ...
    https://medlineplus.gov/genetics/gene/hadha - Genetics
  2. ANK1 gene 
    ... grouped according to the type of the membrane protein defect. Haematologica. 2008 Sep;93(9):1310-7. doi: ...
    https://medlineplus.gov/genetics/gene/ank1 - Genetics
  3. Hereditary spherocytosis 
    ... grouped according to the type of the membrane protein defect. Haematologica. 2008 Sep;93(9):1310-7. doi: ...
    https://medlineplus.gov/genetics/condition/hereditary-spherocytosis - Genetics
  4. Mitochondrial trifunctional protein deficiency 
    ... Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug ... 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. ... trifunctional protein (TFP) deficiency. Mol Genet Metab. 2008 Aug;94( ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
  5. HADHB gene 
    ... Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug ... I, Korenke GC, Das AM. Neonatal screening for defects of the mitochondrial trifunctional protein. Mol Genet Metab. 2005 Jun;85(2):108- ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
  6. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  7. MBL2 gene 
    ... lectin (protein C) 2, soluble mannose-binding lectin (protein C) 2, soluble (opsonic defect) mannose-binding lectin 2, soluble (opsonic defect) mannose-binding protein C mannose-binding protein C precursor MBL MBL2_ ...
    https://medlineplus.gov/genetics/gene/mbl2 - Genetics
  8. Tests for Endometrial Cancer (American Cancer Society)  
    Uterine Cancer/Diagnosis and Tests ... Uterine Cancer ... American Cancer Society ... In case of symptoms or an abnormal screening test, more testing can help find out ...
    https://www.cancer.org/.../how-diagnosed.html - External Health Links
  9. UMOD gene 
    ... mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol ...
    https://medlineplus.gov/genetics/gene/umod - Genetics
  10. MMAA gene 
    ... results in the incomplete break down of certain proteins and lipids. This defect allows toxic compounds to build up in the ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
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