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Results 1 - 10 of 124 for acad OR assai
  1. Short-chain acyl-CoA dehydrogenase deficiency 
    ... 000 to 50,000 newborns. Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions ... the liver and other tissues.Mutations in the ACADS gene lead to a shortage (deficiency) of the ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  2. Hidradenitis suppurativa 
    ... DB. Hidradenitis suppurativa: a comprehensive review. J Am Acad Dermatol. 2009 Apr;60(4):539-61; quiz ... of factors associated with disease severity. J Am Acad Dermatol. 2009 Jul;61(1):51-7. doi: ...
    https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa - Genetics
  3. Rosacea 
    ... autoimmune diseases in patients with rosacea. J Am Acad Dermatol. 2016 Apr;74(4):667-72.e1. ... pathophysiology: a review of recent findings. J Am Acad Dermatol. 2013 Dec;69(6 Suppl 1):S15- ...
    https://medlineplus.gov/genetics/condition/rosacea - Genetics
  4. STAC3 disorder 
    ... muscle Ca2+ channel by mutant Stac3. Proc Natl Acad Sci U S A. 2017 Jan 10;114( ... disrupted by a myopathy-causing mutation. Proc Natl Acad Sci U S A. 2016 Sep 27;113( ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  5. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ... therapeutic management of MELAS syndrome. Ann N Y Acad Sci. 2008 Oct;1142:133-58. doi: 10. ... annals.1444.011. Erratum In: Ann N Y Acad Sci. 2009 Apr;1161:601. Citation on PubMed ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  6. Ankyrin-B syndrome 
    ... targeting causes human sinus node disease. Proc Natl Acad Sci U S A. 2008 Oct 7;105( ... by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 Jun 15;101( ...
    https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome - Genetics
  7. UV-sensitive syndrome 
    ... sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101( ... to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106( ...
    https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome - Genetics
  8. Adiposis dolorosa 
    ... M. Familial occurrence of adiposis dolorosa. J Am Acad Dermatol. 2001 Jan;44(1):132-6. doi: ... physiology and skin manifestations of obesity. J Am Acad Dermatol. 2007 Jun;56(6):901-16; quiz ...
    https://medlineplus.gov/genetics/condition/adiposis-dolorosa - Genetics
  9. Pseudoxanthoma elasticum 
    ... L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. ... elasticum by inducing cellular nucleotide release. Proc Natl Acad Sci U S A. 2013 Dec 10;110( ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  10. Junctional epidermolysis bullosa 
    ... on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: ... in a series of consanguineous families. J Am Acad Dermatol. 2002 Apr;46(4):510-6. doi: ...
    https://medlineplus.gov/.../junctional-epidermolysis-bullosa - Genetics
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