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Results 1 - 10 of 41 for Complex V deficiency
  1. Mitochondrial complex V deficiency 
    Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. ... which cells derive much of their energy.Mitochondrial complex V deficiency can cause a wide variety of signs and ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  2. GRACILE syndrome 
    ... Zhang DL, Smet J, van Coster R, Fellman V. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion. 2010 Aug;10(5):497-509. doi: ... Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  3. ACAD9 deficiency 
    ... deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 PubMed Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe TA. An atypical ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  4. Mitochondrial complex I deficiency 
    ... C, Henrion D, Bonneau D, Reynier P, Procaccio V. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Int J Biochem Cell Biol. 2015 Aug;65: ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  5. Adenylosuccinate lyase deficiency 
    ... Free article on PubMed Central Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat. 2010 Apr;31(4):445-55. ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002 Mar ... fractures, and mental deficiency is linked to Xq22. J Med Genet. 1995 ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. Multiple sulfatase deficiency 
    ... Parenti G, Vossough A, Vanderver A, Adang LA. Complex care of individuals with multiple ... I, Bouche V, Lombardi A, Settembre C, Ballabio A. Multiple sulfatase ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  8. Pyruvate dehydrogenase deficiency 
    ... Molecular characterization of 82 patients with pyruvate dehydrogenase complex ... N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  9. Glycogen storage disease type V 
    ... MA. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. Hum Mutat. 2007 Feb;28(2):203-4. doi: 10.1002/humu.9474. Citation on PubMed
    https://medlineplus.gov/.../glycogen-storage-disease-type-v - Genetics
  10. Complement component 8 deficiency 
    Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions ...
    https://medlineplus.gov/.../complement-component-8-deficiency - Genetics
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