• Proximal aortic arch hypoplasia
  Proximal aortic arch hypoplasia
  MedGen
• Significant Arterial Dissection
  Significant Arterial Dissection
  MedGen
• Sialic Acid Storage Disease
  Sialic Acid Storage Disease

  Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within...<br/>Year introduced: 2002
  MeSH
• Glycogen Storage Disease Type II
  Glycogen Storage Disease Type II

  An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeleta...<br/>Year introduced: 1989(1975)
  MeSH

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