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Results 1 - 10 of 39 for Metabolic disease
  1. Biotinidase deficiency 
    ... deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. ...
    https://medlineplus.gov/genetics/condition/biotinidase-deficiency - Genetics
  2. Dent disease 
    ... syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. ...
    https://medlineplus.gov/genetics/condition/dent-disease - Genetics
  3. Cryptogenic cirrhosis 
    ... Sau D, Bhattacharjee K, Joardar S. Cryptogenic cirrhosis: metabolic liver disease due to insulin resistance. Indian J Med Sci. ...
    https://medlineplus.gov/genetics/condition/cryptogenic-cirrhosis - Genetics
  4. Vitamin D-dependent rickets 
    ... Turner AG, Morris HA. Vitamin D activities and metabolic bone disease. Clin Chim Acta. 2013 Oct 21;425:148- ...
    https://medlineplus.gov/.../condition/vitamin-d-dependent-rickets - Genetics
  5. Small fiber neuropathy 
    ... neuropathy. Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac disease or Sjogren ...
    https://medlineplus.gov/genetics/condition/small-fiber-neuropathy - Genetics
  6. Fabry disease 
    ... H, Rosenberg KM, Hasholt L, Sorensen SA. Fabry disease--a metabolic disorder with a challenge for endocrinologists? Horm Res. 2002;58(6):259-65. doi: 10.1159/000066443. Citation on PubMed ... spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era ...
    https://medlineplus.gov/genetics/condition/fabry-disease - Genetics
  7. Non-alcoholic fatty liver disease 
    ... in GCKR and TRIB1 with nonalcoholic fatty liver disease and metabolic syndrome traits. Endocr J. 2014;61(7):683-9. doi: 10.1507/endocrj.ej14-0052. Epub 2014 May 1. Citation on PubMed ... classification of fatty liver disease. Semin Liver Dis. 2013 Nov;33(4):369- ...
    https://medlineplus.gov/.../non-alcoholic-fatty-liver-disease - Genetics
  8. Cutis laxa 
    ... gov/books/NBK1413/ Citation on PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  9. Methylmalonic acidemia with homocystinuria 
    ... coA mutase and homocysteine:methyltetrahydrofolate methyltransferase Vitamin B12 metabolic defect with ... Cobalamin C disease Genetic Testing Registry: Methylmalonic aciduria and homocystinuria type ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  10. Neutral lipid storage disease with myopathy 
    ... Minicocci I, Bruno C, Pennisi E, Arca M. Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. J Clin Endocrinol Metab. 2013 Sep; ...
    https://medlineplus.gov/...utral-lipid-storage-disease-with-myopathy - Genetics
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