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Results 1 - 10 of 68 for metabolic disorders
  1. Hypermethioninemia 
    ... resembling boiled cabbage.Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia, and galactosemia, which also ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  2. GRACILE syndrome 
    ... Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis. 2002 ... Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  3. Amish lethal microcephaly 
    ... KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  4. Alström syndrome 
    ... N. Alstrom syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol. 2011 Feb;7(2):77- ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  5. Small fiber neuropathy 
    ... neuropathy. Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac ...
    https://medlineplus.gov/genetics/condition/small-fiber-neuropathy - Genetics
  6. Aceruloplasminemia 
    ... Citation on PubMed Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology. 2003 Dec;23(4):345-50. doi: ...
    https://medlineplus.gov/genetics/condition/aceruloplasminemia - Genetics
  7. Trimethylaminuria 
    ... J. Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder. J Paediatr Child Health. 2012 Mar;48(3): ...
    https://medlineplus.gov/genetics/condition/trimethylaminuria - Genetics
  8. MEGDEL syndrome 
    ... MEGDEL syndrome is one of a group of metabolic disorders that can be diagnosed by presence of this feature. People with MEGDEL syndrome also have high urine levels of another ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  9. Arginase deficiency 
    ... inborn errors of the urea cycle and related metabolic disorders during childhood. J Nutr. 2004 Jun;134(6 ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  10. Fabry disease 
    ... KM, Hasholt L, Sorensen SA. Fabry disease--a metabolic disorder with a challenge for endocrinologists? Horm Res. 2002; ...
    https://medlineplus.gov/genetics/condition/fabry-disease - Genetics
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